Osteochondritis of tarsal/metatarsal bone, also known as Kohler disease, is a pediatric osteochondrosis of the tarsal navicular. The curated MONDO term maps to childhood navicular osteochondrosis/avascular necrosis rather than to adult Muller-Weiss disease or metatarsal-head Freiberg disease.
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name: Osteochondritis of Tarsal/Metatarsal Bone
creation_date: "2026-05-09T13:22:43Z"
updated_date: "2026-05-09T22:27:56Z"
category: Complex
description: >
Osteochondritis of tarsal/metatarsal bone, also known as Kohler disease, is a
pediatric osteochondrosis of the tarsal navicular. The curated MONDO term maps
to childhood navicular osteochondrosis/avascular necrosis rather than to adult
Muller-Weiss disease or metatarsal-head Freiberg disease.
disease_term:
preferred_term: osteochondritis of tarsal/metatarsal bone
term:
id: MONDO:0016086
label: osteochondritis of tarsal/metatarsal bone
parents:
- Osteochondrosis
- Pediatric Foot Disease
synonyms:
- Kohler disease
- Kohler's disease
- Osteochondrosis of the tarsal bone
- Aseptic necrosis of the tarsal bone
prevalence:
- population: Pediatric foot-pain literature
percentage: Rare; population-level prevalence not established
notes: >
Published abstracts characterize Kohler disease as uncommon or rare, but no
population incidence or prevalence estimate was found in the Falcon report or
PubMed abstracts used for this entry.
evidence:
- reference: PMID:28801039
reference_title: "Kohler's disease presenting as acute foot injury."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Kohler's disease is rare cause of foot pain and limping in the pediatric population."
explanation: >
A pediatric emergency case report explicitly characterizes Kohler disease
as rare in the pediatric foot-pain differential.
progression:
- phase: Childhood Presentation
age_range: 2 to 10 years
notes: >
Typical onset is in early childhood, with a male predominance in published
pediatric series and reviews.
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The age at presentation is between 2 and 10 years, with boys more likely to be affected than girls."
explanation: >
This review supports early-childhood presentation and male predominance.
- phase: Self-Limited Remodeling
notes: >
Symptoms and radiographic abnormalities usually improve over time, with
short-leg walking cast immobilization shortening morbidity in symptomatic
children.
evidence:
- reference: PMID:7273526
reference_title: "Köhler's disease of the tarsal navicular."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Notwithstanding the decrease in morbidity with the use of a short-leg walking cast, the long-term results suggest that all of our patients eventually had spontaneous reconstitution of the navicular and excellent recovery of function."
explanation: >
This classic clinical series supports eventual navicular reconstitution and
favorable functional recovery.
pathophysiology:
- name: Disturbed Navicular Ossification and Circulation
description: >
Kohler disease belongs to the pediatric foot osteochondroses, a group of
self-limited conditions in which disturbed ossification and reduced local
circulation affect developing foot bones. In MONDO:0016086, the affected
ossification center is the tarsal navicular.
cell_types:
- preferred_term: Chondrocyte
term:
id: CL:0000138
label: chondrocyte
- preferred_term: Osteocyte
term:
id: CL:0000137
label: osteocyte
biological_processes:
- preferred_term: Ossification
term:
id: GO:0001503
label: ossification
- preferred_term: Cartilage Development
term:
id: GO:0051216
label: cartilage development
locations:
- preferred_term: Tarsal navicular bone
term:
id: UBERON:0001451
label: navicular bone of pes
- preferred_term: Bone tissue
term:
id: UBERON:0002481
label: bone tissue
evidence:
- reference: PMID:23254328
reference_title: "[Osteochondrosis of the pediatric foot]."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Osteochondrosis is a heterogeneous group of self-limiting conditions characterized by disturbance of enchondral ossification caused by a lack of circulation."
explanation: >
This pediatric foot osteochondrosis review supports disturbed endochondral
ossification with reduced circulation as the broader disease-process frame.
- reference: PMID:31083875
reference_title: "Apophysitis and Osteochondrosis: Common Causes of Pain in Growing Bones."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Other locations of osteochondrosis include the second metatarsal head (i.e., Freiberg disease), the navicular bone (i.e., Köhler bone disease), the femoral head (i.e., Legg-Calvé-Perthes disease), and the capitellum (i.e., Panner disease)."
explanation: >
This review identifies the navicular bone as the site of Kohler bone disease
within the osteochondrosis family.
downstream:
- target: Navicular Osteonecrosis and Structural Remodeling
description: >
Reduced local circulation and altered ossification lead to osteochondrosis
or avascular necrosis of the tarsal navicular with later radiographic
remodeling.
causal_link_type: INDIRECT_KNOWN_INTERMEDIATES
intermediate_mechanisms:
- vascular insufficiency
- delayed or disturbed ossification
- name: Navicular Osteonecrosis and Structural Remodeling
description: >
The developing tarsal navicular undergoes osteochondrosis or avascular
necrosis, producing increased sclerosis, flattening, fragmentation, or
rarefaction on imaging. These structural changes explain medial midfoot pain,
limping, and transient inability to bear weight.
cell_types:
- preferred_term: Osteocyte
term:
id: CL:0000137
label: osteocyte
biological_processes:
- preferred_term: Bone Mineralization
term:
id: GO:0030282
label: bone mineralization
locations:
- preferred_term: Tarsal navicular bone
term:
id: UBERON:0001451
label: navicular bone of pes
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Köhler disease is a childhood condition of pain and swelling of the medial midfoot with associated osteochondrosis or avascular necrosis of the tarsal navicular."
explanation: >
This directly links the pediatric clinical syndrome to tarsal navicular
osteochondrosis or avascular necrosis.
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Radiographs show increased sclerosis and sometimes flattening and fragmentation of the navicular."
explanation: >
This directly supports the characteristic structural radiographic changes.
phenotypes:
- category: Clinical
name: Medial Midfoot Pain
phenotype_term:
preferred_term: Foot pain
term:
id: HP:0025238
label: Foot pain
description: >
Pain localizes to the medial midfoot or foot, reflecting symptomatic navicular
osteochondrosis.
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Köhler disease is a childhood condition of pain and swelling of the medial midfoot with associated osteochondrosis or avascular necrosis of the tarsal navicular."
explanation: >
This review identifies pain in the medial midfoot as a core clinical
manifestation.
- reference: PMID:25783595
reference_title: "Köhler disease: an infrequent or underdiagnosed cause of child's limping?"
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Typically the child reports pain with mechanical characteristics in the medial region of the foot"
explanation: >
This case-based clinical report supports medial foot pain as a typical
symptom.
- category: Clinical
name: Limping Gait and Difficulty Bearing Weight
phenotype_term:
preferred_term: Painful limping and weight-bearing difficulty
term:
id: HP:0001288
label: Gait disturbance
description: >
Children may limp, sometimes as the only obvious manifestation, and can have
acute difficulty bearing weight because loading through the painful navicular
is avoided.
evidence:
- reference: PMID:28801039
reference_title: "Kohler's disease presenting as acute foot injury."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "It usually presents as sudden and unexplained foot pain and limping."
explanation: >
This directly supports limping as a usual presentation.
- reference: PMID:25783595
reference_title: "Köhler disease: an infrequent or underdiagnosed cause of child's limping?"
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "intermittent or continuous limping may be the only clinical manifestation"
explanation: >
This supports limping as a prominent and sometimes isolated clinical sign.
- reference: PMID:28801039
reference_title: "Kohler's disease presenting as acute foot injury."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "foot pain and inability to bear weight for two days after overactivity and acute foot injury"
explanation: >
This case report documents inability to bear weight at presentation.
- category: Clinical
name: Medial Midfoot Swelling
phenotype_term:
preferred_term: Medial midfoot swelling
term:
id: HP:6000840
label: Localized soft-tissue swelling on extremity
description: >
Localized swelling over the medial midfoot accompanies the painful navicular
osteochondrosis presentation.
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Köhler disease is a childhood condition of pain and swelling of the medial midfoot with associated osteochondrosis or avascular necrosis of the tarsal navicular."
explanation: >
This definition identifies swelling of the medial midfoot as a core
manifestation alongside pain.
- category: Clinical
name: Navicular Avascular Necrosis
phenotype_term:
preferred_term: Avascular necrosis of the tarsal navicular
term:
id: HP:0010885
label: Avascular necrosis
description: >
The tarsal navicular is the focal bone undergoing osteochondrosis/ischemic
necrosis.
evidence:
- reference: PMID:28801039
reference_title: "Kohler's disease presenting as acute foot injury."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The patient was eventually diagnosed with Kohler's disease (avascular necrosis of the navicular bone)."
explanation: >
This explicitly equates Kohler disease with avascular necrosis of the
navicular bone.
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "associated osteochondrosis or avascular necrosis of the tarsal navicular"
explanation: >
This confirms the disease process and anatomic site.
- category: Radiographic
name: Navicular Sclerosis, Flattening, and Fragmentation
phenotype_term:
preferred_term: Abnormality of the tarsal navicular
term:
id: HP:0001850
label: Abnormality of the tarsal bones
description: >
Plain radiographs may show increased navicular density/sclerosis with
flattening, fragmentation, or irregular rarefaction.
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Radiographs show increased sclerosis and sometimes flattening and fragmentation of the navicular."
explanation: >
This directly supports the characteristic radiographic phenotype.
- reference: PMID:25783595
reference_title: "Köhler disease: an infrequent or underdiagnosed cause of child's limping?"
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "The radiologic evaluation showed flattening, sclerosis and irregular rarefaction of both navicular bones."
explanation: >
This case report supports flattening, sclerosis, and rarefaction of the
navicular bones on imaging.
diagnosis:
- name: Plain Radiography
diagnosis_term:
preferred_term: X-ray imaging
term:
id: NCIT:C38101
label: X-Ray Imaging
description: >
Plain radiographs support diagnosis by showing navicular sclerosis,
flattening, fragmentation, or related ossification abnormalities. Clinical
correlation is needed because asymptomatic navicular ossification variants can
resemble Kohler osteochondrosis.
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Radiographs show increased sclerosis and sometimes flattening and fragmentation of the navicular."
explanation: >
This supports radiography as the imaging modality showing characteristic
diagnostic features.
- reference: PMID:7273526
reference_title: "Köhler's disease of the tarsal navicular."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Symptomatic or true Köhler's disease must be differentiated clinically from asymptomatic roentgenographic changes resembling Köhler's osteochondrosis."
explanation: >
This supports the need to interpret radiographs together with symptoms.
- name: Magnetic Resonance Imaging
diagnosis_term:
preferred_term: magnetic resonance imaging
term:
id: NCIT:C16809
label: Magnetic Resonance Imaging
description: >
MRI is a secondary imaging option when early radiographs are normal or when
more sensitive detection of early osteochondrosis changes is needed.
evidence:
- reference: PMID:31083875
reference_title: "Apophysitis and Osteochondrosis: Common Causes of Pain in Growing Bones."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Radiography results may be normal initially; magnetic resonance imaging is more sensitive to early changes."
explanation: >
This review supports MRI as a more sensitive secondary imaging modality
for early osteochondrosis changes.
environmental:
- name: Mechanical and Vascular Susceptibility
presence: Possible
description: >
The immediate cause is not established. Reviews of osteochondrosis describe
possible contributions from mechanical factors, repetitive trauma, and
vascular abnormalities; these remain mechanistic hypotheses rather than
confirmed single causes for Kohler disease.
evidence:
- reference: PMID:31083875
reference_title: "Apophysitis and Osteochondrosis: Common Causes of Pain in Growing Bones."
supports: PARTIAL
evidence_source: HUMAN_CLINICAL
snippet: "Multiple possible etiologies have been explored, including genetic causes, hormonal imbalances, mechanical factors, repetitive trauma, and vascular abnormalities."
explanation: >
This supports broad osteochondrosis etiologic hypotheses but does not
establish a single Kohler-specific cause, so support is partial.
treatments:
- name: Relative Rest and Offloading
description: >
Relative rest, reduction of painful loading, and monitoring are conservative
first-line approaches for pediatric osteochondrosis including Kohler disease.
treatment_term:
preferred_term: supportive care
term:
id: MAXO:0000950
label: supportive care
target_phenotypes:
- preferred_term: Foot pain
term:
id: HP:0025238
label: Foot pain
evidence:
- reference: PMID:31083875
reference_title: "Apophysitis and Osteochondrosis: Common Causes of Pain in Growing Bones."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Osteochondrosis generally resolves with relative rest, but close monitoring is needed to ensure resolution."
explanation: >
This supports relative rest and monitoring as conservative management for
osteochondrosis.
- name: Short-Leg Walking Cast Immobilization
description: >
Short-leg walking cast immobilization can reduce symptom duration in
symptomatic children while long-term recovery remains favorable.
treatment_term:
preferred_term: orthopedic procedure
term:
id: MAXO:0000477
label: orthopedic procedure
target_phenotypes:
- preferred_term: Foot pain
term:
id: HP:0025238
label: Foot pain
- preferred_term: Painful limping and weight-bearing difficulty
term:
id: HP:0001288
label: Gait disturbance
evidence:
- reference: PMID:30685015
reference_title: "Köhler Disease: Avascular Necrosis in the Child."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Long-term outcomes for Köhler disease are favorable regardless of the type of treatment, although a short period of immobilization with a short leg walking cast may reduce the duration of symptoms."
explanation: >
This review supports cast immobilization as a symptom-duration-reducing
conservative option.
- reference: PMID:7273526
reference_title: "Köhler's disease of the tarsal navicular."
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: "Whereas patients who were not treated in a short-leg cast had symptoms for an average duration of 15 months, treated patients had symptoms for less than three months."
explanation: >
This clinical series directly reports shorter symptom duration with a
short-leg cast.
- name: Navicular Decompression and Micro-Circulation Reconstruction
description: >
Surgery is not routine for Kohler disease, but a small refractory pediatric
series reported navicular decompression with micro-circulation reconstruction
after unsuccessful conservative treatment.
treatment_term:
preferred_term: surgical procedure
term:
id: MAXO:0000004
label: surgical procedure
target_mechanisms:
- target: Navicular Osteonecrosis and Structural Remodeling
treatment_effect: MODULATES
description: >
The operation is intended to decompress the navicular and improve local
microcirculation in refractory ischemic navicular disease.
target_phenotypes:
- preferred_term: Foot pain
term:
id: HP:0025238
label: Foot pain
evidence:
- reference: PMID:38491143
reference_title: "Clinical report of microsurgical treatment of Kohler's disease."
supports: PARTIAL
evidence_source: HUMAN_CLINICAL
snippet: "From October 2013 to July 2015, 3 children with Kohler's disease underwent navicular decompression and micro-circulation reconstruction surgery in our hospital."
explanation: >
This supports the existence of a refractory-case surgical approach, but the
evidence is limited to three children.
- reference: PMID:38491143
reference_title: "Clinical report of microsurgical treatment of Kohler's disease."
supports: PARTIAL
evidence_source: HUMAN_CLINICAL
snippet: "Navicular decompression and micro-circulation reconstruction surgery may quickly improve the ischemic status of navicular bone, alleviate pain symptom and enable patients to resume normal activity as soon as possible."
explanation: >
The abstract itself uses cautious language, so this is treated as partial
support for benefit in refractory cases.
review_notes: >
Falcon deep research completed on 2026-05-09. The report discussed the broader
umbrella of tarsal/metatarsal osteochondroses, including Freiberg disease and
adult Muller-Weiss disease, but MONDO:0016086 specifically defines the Kohler
disease/tarsal navicular phenotype; this YAML is scoped accordingly.
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Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies
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The umbrella phrase “osteochondritis of tarsal/metatarsal bone” is not a single well-defined disease entity in the retrieved literature; rather, it most consistently maps to a group of osteochondroses/osteonecroses affecting (i) the tarsal navicular in children (Köhler disease), (ii) the metatarsal head (classically the 2nd) in adolescents (Freiberg disease / Freiberg infraction), and (iii) the tarsal navicular in adults (Müller–Weiss disease, spontaneous adult navicular osteonecrosis). (liu2024footpainin pages 8-10, goncalvesdos2024necrosisavasculardel pages 2-4, maruszczak2024lowerlimbosteochondrosis pages 9-10)
Because no ontology/terminology databases (MONDO/Orphanet/MeSH/ICD) were directly queried in the available toolchain for this run, definitive MONDO IDs, MeSH IDs, Orphanet IDs, and ICD-10/ICD-11 codes could not be verified from primary evidence in the retrieved texts. The report therefore focuses on evidence-backed clinical entities and their characteristics.
| Entity | Primary bone/joint | Typical age | Sex predominance | Key synonyms | Key imaging features | Notes on etiology/risk factors | Key sources with DOI and year |
|---|---|---|---|---|---|---|---|
| Freiberg disease | Usually 2nd metatarsal head / 2nd metatarsophalangeal joint; less often 3rd, 4th metatarsal head | Adolescence; often adolescent athletes | Female predominance; reported ~5:1 female:male | Freiberg infraction; osteochondrosis/avascular necrosis of the metatarsal head | Radiographs: widening of MTP joint, then subchondral flattening/collapse, sclerosis, fragmentation; MRI: bone marrow edema and subchondral/cartilage defects; US: flattened/fragmented metatarsal head, irregular bony surface, synovial hyperplasia/effusion | Multifactorial; trauma/repetitive microtrauma, mechanical overload, possible vascular insufficiency/watershed supply, mechanical arterial compression; associated systemic disorders reported include hypercoagulability, SLE, diabetes | Carmont et al., 2009, DOI: 10.3113/fai-2009-0167; Kim et al., 2024, DOI: 10.7547/22-025; Liu et al., 2024, DOI: 10.14366/usg.24002 (liu2024footpainin pages 8-10, kim2024shorttermoutcomesof pages 1-2, carmont2009currentconceptsreview pages 1-2) |
| Köhler disease | Tarsal navicular | Usually children; commonly 4–7 years; also described in children <10 years | Male predominance; boys affected about 4 times more often; bilateral in up to 25% | Köhler’s disease; navicular osteochondrosis; avascular necrosis of the navicular in childhood | Radiographs: wafer-thin navicular, bony collapse, fragmentation, patchy sclerosis/increased radiodensity, flattening and loss of normal trabecular pattern; US: unsmooth/bumpy/fragmented navicular ossification center, possible deformity | Self-limited osteochondrosis in skeletally immature children; thought related to delayed/late ossification with increased mechanical compression/loading before complete ossification; trauma and ischemia also implicated | Maruszczak et al., 2024, DOI: 10.3390/app142411795; Liu et al., 2024, DOI: 10.14366/usg.24002; Steinborn & Glaser, 2019, DOI: 10.1055/s-0039-1695721 (liu2024footpainin pages 1-2, steinborn2019normalvariationsand pages 1-2, maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Müller-Weiss disease | Adult tarsal navicular / midfoot | Adults, typically 4th–6th decades; many diagnosed in 4th–5th decades | Female predominance; about 70% female in reviewed series | Müller-Weiss disease; spontaneous osteonecrosis/avascular necrosis of the navicular | Radiographs: condensation/sclerosis, fragmentation, dorsolateral fragmentation, deformity; may show osteophytes and paradoxical flatfoot; MRI may mimic osteonecrosis | Rare adult navicular osteonecrosis; proposed factors include delayed ossification plus abnormal force distribution, vascular compromise, bone dysplasia/uneven compressive stress, trauma/stress fracture history, childhood physical/nutritional stress; may be unilateral or bilateral | Gonçalves-dos Santos et al., 2024, DOI: 10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 1-2, goncalvesdos2024necrosisavasculardel pages 2-4, santos2024avascularnecrosisof pages 1-2) |
Table: This table maps the umbrella concept of osteochondritis/osteochondrosis affecting tarsal or metatarsal bones to the main clinical entities encountered in practice. It summarizes age/sex patterns, synonymous names, imaging hallmarks, and supported etiologic notes using only the gathered evidence.
The retrieved evidence is mostly aggregated disease-level clinical literature (reviews and systematic reviews) plus a retrospective surgical cohort for Freiberg disease; it is not derived from EHR-scale datasets in the retrieved corpus. (goncalvesdos2024necrosisavasculardel pages 1-2, kim2024shorttermoutcomesof pages 1-2, schade2015surgicalmanagementof pages 1-2)
Freiberg disease - Etiology is described as multifactorial, with proposed roles for trauma/microtrauma, mechanical arterial compression, possible vascular “watershed” vulnerability, and systemic disorders including hypercoagulability, systemic lupus erythematosus, and diabetes. (liu2024footpainin pages 8-10, carmont2009currentconceptsreview pages 1-2) - Vascular anatomy studies in a systematic review context: one cadaveric study reported 65% of second metatarsals lacked a vascular branch from the first web-space artery; another noted the epiphysis is supplied by small vessels near the joint capsule, hypothesized to be vulnerable to compression. (schade2015surgicalmanagementof pages 1-2)
Köhler disease - 2024 review synthesis suggests the likely driver is increased mechanical compression/loading of the navicular before complete ossification, disrupting blood supply and leading to ischemia/avascular necrosis; trauma is also discussed as a possible contributor. (maruszczak2024lowerlimbosteochondrosis pages 9-10)
Müller–Weiss disease - Proposed etiologies in a 2024 systematic review include: delayed ossification plus abnormal force distribution, bone dysplasia/uneven compressive stress, and vascular compromise, with possible contributors such as intensive childhood physical stress, nutritional/environmental/metabolic factors, and trauma/stress fractures. (goncalvesdos2024necrosisavasculardel pages 1-2)
No specific protective genetic variants, environmental protective factors, or formal gene–environment interaction studies were identified in the retrieved evidence set.
Across entities, pain and functional limitation are dominant, with entity-specific location and imaging findings.
| Entity | Phenotype (plain language) | Phenotype type (symptom/sign/imaging) | Typical onset/age | Frequency (if available) | Suggested HPO term(s) (best-effort) | Supporting citation (with DOI/year) |
|---|---|---|---|---|---|---|
| Freiberg disease | Forefoot chronic pain | Symptom | Adolescence; often adolescent athletic females | not reported | HP:0001836 Pain in the metatarsal region; HP:0001767 Foot pain | Liu et al., 2024, DOI:10.14366/usg.24002 (liu2024footpainin pages 8-10) |
| Freiberg disease | Swelling around the metatarsophalangeal joint | Sign | Adolescence | not reported | HP:0001389 Arthritis; HP:0011463 Swelling of joint | Liu et al., 2024, DOI:10.14366/usg.24002 (liu2024footpainin pages 8-10) |
| Freiberg disease | Tenderness over affected metatarsal head | Sign | Adolescence | not reported | HP:0033748 Tenderness | Liu et al., 2024, DOI:10.14366/usg.24002; Gillespie, 2010, DOI:10.1249/jsr.0b013e3181f19488 (liu2024footpainin pages 8-10, gillespie2010osteochondrosesandapophyseal pages 1-2) |
| Freiberg disease | Restricted metatarsophalangeal joint motion | Sign | Adolescence | not reported | HP:0031372 Reduced joint range of motion | Liu et al., 2024, DOI:10.14366/usg.24002 (liu2024footpainin pages 8-10) |
| Freiberg disease | Focal pain and tenderness | Symptom/sign | Adolescent girls | not reported | HP:0001767 Foot pain; HP:0033748 Tenderness | Reginelli et al., 2018, DOI:10.23750/abm.v89i1-s.7009 (steinborn2019normalvariationsand pages 1-2) |
| Freiberg disease | Widening of the MTP joint, followed by metatarsal head collapse and sclerosis on radiographs | Imaging | Adolescence | not reported | HP:0001363 Osteonecrosis; HP:0100807 Abnormality of the metatarsal bones | Gillespie, 2010, DOI:10.1249/jsr.0b013e3181f19488 (gillespie2010osteochondrosesandapophyseal pages 1-2) |
| Freiberg disease | Flattened/fragmented metatarsal head with rough irregular bony surface on ultrasound | Imaging | Adolescence | not reported | HP:0100807 Abnormality of the metatarsal bones; HP:0001363 Osteonecrosis | Liu et al., 2024, DOI:10.14366/usg.24002 (liu2024footpainin pages 8-10) |
| Freiberg disease | Bone marrow edema and subchondral/cartilage defects on MRI | Imaging | Adolescence to adulthood | not reported | HP:0011849 Abnormality of the epiphysis; HP:0001363 Osteonecrosis | Kim et al., 2024, DOI:10.7547/22-025 (kim2024shorttermoutcomesof pages 1-2) |
| Köhler disease | Dorsomedial midfoot pain | Symptom | Children, usually 4–7 years | not reported | HP:0001767 Foot pain | Maruszczak et al., 2024, DOI:10.3390/app142411795 (maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Köhler disease | Local swelling over navicular region | Sign | Children, usually 4–7 years | not reported | HP:0001389 Arthritis; HP:0011463 Swelling of joint | Maruszczak et al., 2024, DOI:10.3390/app142411795 (maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Köhler disease | Tenderness over navicular | Sign | Children <10 years; commonly 4–7 years | not reported | HP:0033748 Tenderness | Maruszczak et al., 2024, DOI:10.3390/app142411795 (maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Köhler disease | Limp favoring the lateral side of the foot | Sign | Children, usually 4–7 years | not reported | HP:0002204 Abnormal gait; HP:0002515 Limping | Maruszczak et al., 2024, DOI:10.3390/app142411795 (maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Köhler disease | Bilateral involvement | Sign/distribution | Children younger than 10 years | up to 25% | HP:0012832 Bilateral | Liu et al., 2024, DOI:10.14366/usg.24002 (liu2024footpainin pages 1-2) |
| Köhler disease | Unsmooth, bumpy, fragmented, sometimes deformed navicular ossification center on ultrasound | Imaging | Children younger than 10 years | not reported | HP:0000925 Abnormality of the skeletal system; HP:0011849 Abnormality of the epiphysis | Liu et al., 2024, DOI:10.14366/usg.24002 (liu2024footpainin pages 1-2) |
| Köhler disease | Wafer-thin navicular with collapse, fragmentation, patchy sclerosis, and increased radiodensity on radiographs | Imaging | Children, usually 4–7 years | not reported | HP:0001363 Osteonecrosis; HP:0000925 Abnormality of the skeletal system | Maruszczak et al., 2024, DOI:10.3390/app142411795 (maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Köhler disease | Navicular flattening, increased density, and fragmentation on radiographs | Imaging | Children aged ~3–9 years | not reported | HP:0001363 Osteonecrosis; HP:0000925 Abnormality of the skeletal system | Steinborn & Glaser, 2019, DOI:10.1055/s-0039-1695721 (steinborn2019normalvariationsand pages 1-2) |
| Müller-Weiss disease | Chronic midfoot pain | Symptom | Adults, typically 4th–6th decades | not reported | HP:0001767 Foot pain | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 1-2) |
| Müller-Weiss disease | Long-term mechanical dorsal foot pain | Symptom | Adults, usually diagnosed in 4th–5th decades | not reported | HP:0001767 Foot pain | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
| Müller-Weiss disease | Midfoot varus deformity | Sign | Adults, 4th–6th decades | not reported | HP:0004689 Varus deformity of foot | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 1-2) |
| Müller-Weiss disease | Ankle instability | Sign/symptom | Adults | not reported | HP:0002141 Ankle instability | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
| Müller-Weiss disease | Reduced subtalar mobility | Sign | Adults | not reported | HP:0031372 Reduced joint range of motion | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
| Müller-Weiss disease | Peroneal tendonitis | Sign | Adults | not reported | HP:0100526 Tendinitis | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
| Müller-Weiss disease | Condensation/sclerosis and fragmentation of the navicular on radiographs | Imaging | Adults, 4th–6th decades | not reported | HP:0001363 Osteonecrosis; HP:0000925 Abnormality of the skeletal system | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 1-2, santos2024avascularnecrosisof pages 1-2) |
| Müller-Weiss disease | Osteophytes and dorsolateral fragmentation of the navicular | Imaging | Adults | not reported | HP:0002808 Osteophyte; HP:0001363 Osteonecrosis | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
| Müller-Weiss disease | Paradoxical flatfoot | Sign/imaging | Adults | not reported | HP:0001762 Flat feet | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
| Müller-Weiss disease | Bilateral or unilateral involvement | Sign/distribution | Adults | not reported | HP:0012832 Bilateral | Gonçalves-dos Santos et al., 2024, DOI:10.35366/117381 (goncalvesdos2024necrosisavasculardel pages 2-4) |
Table: This table summarizes key clinical and imaging phenotypes reported in context for Freiberg disease, Köhler disease, and Müller-Weiss disease. It is useful for building phenotype annotations and suggested HPO mappings while clearly marking where frequencies were not reported.
The evidence base emphasizes mechanical load/repetitive stress and (for adult navicular osteonecrosis) systemic/metabolic contributors as possible factors, rather than discrete toxins or infectious causes. (goncalvesdos2024necrosisavasculardel pages 1-2, maruszczak2024lowerlimbosteochondrosis pages 9-10)
A sports-medicine review describes osteochondroses as “bone-cartilage conditions” associated with disturbed endochondral ossification and a typical sequence of necrosis → revascularization → granulation/invasion → osteoclast resorption → osteoid replacement and lamellar bone formation. (gillespie2010osteochondrosesandapophyseal pages 1-2)
Suggested GO biological processes (best-effort, not explicitly asserted in retrieved texts): endochondral ossification; bone remodeling; angiogenesis; response to mechanical stress.
Suggested CL cell types (best-effort): osteoblast; osteoclast; chondrocyte; endothelial cell.
UBERON suggestions (best-effort): navicular bone of foot; metatarsal bone; metatarsophalangeal joint; midfoot.
No population-based prevalence/incidence estimates for these entities were identified in the retrieved evidence set.
A 2024 retrospective arthroscopy cohort restates Smillie I–V definitions (I fissure+sclerosis; II cancellous absorption with dorsal sinking; III absorption with bony projections; IV loose body; V arthrosis with flattening/deformity) and reports surgical outcomes across stages. (kim2024shorttermoutcomesof pages 1-2)
A consolidated treatment-and-outcomes table is provided below.
| Entity | First-line diagnostics | Key staging/classification | Conservative treatments | Surgical options | Reported outcomes/statistics (with numbers, follow-up) when available | Suggested MAXO terms (best-effort) | Supporting citations |
|---|---|---|---|---|---|---|---|
| Freiberg disease | Plain radiographs for diagnosis and Smillie staging; follow-up radiographs; MRI to assess bone marrow edema, subchondral cortical irregularity, and cartilage defects; ultrasound can show flattened/fragmented metatarsal head, irregular bony surface, synovial hyperplasia, effusion, Doppler angiogenesis | Smillie I-V: I fissure+sclerosis; II cancellous absorption with dorsal cartilage sinking; III further absorption with medial/lateral projections; IV central loose body; V arthrosis with flattening/deformity | Rest, activity modification, footwear modification, orthosis/padding, NSAIDs, immobilization | Arthroscopic synovectomy/debridement/chondroplasty/microfracture; core decompression; debridement; perichondral grafting; dorsal closing-wedge osteotomy; osteochondral autologous transplantation (OAT); arthroplasty; metatarsal head restoration/resection | Arthroscopy series: 13 patients/15 feet, 12-month radiographs showed no progression; AOFAS improved from 39.67±5.04 pre-op to 93.07±1.83 at 12 months; VAS 7.20±1.42 to 1.80±0.41; ROM 33.67°±4.81° to 51.67°±5.23°; return to normal activities in 4-6 weeks (12-month follow-up) (kim2024shorttermoutcomesof pages 2-6, kim2024shorttermoutcomesof pages 6-7). Systematic review: 257 joint-sparing procedures, mean follow-up 30.4 months, >90% pain resolution/full return to activity; 70 joint-destructive procedures, mean follow-up 15.0 months, >70% pain resolution/full return to activity (schade2015surgicalmanagementof pages 1-2). Adult late-stage comparative study: OAT AOFAS 95.7 vs DCWMO 87.9 at final follow-up; fewer complications with OAT (kim2020comparisonofosteochondral pages 7-7) | MAXO: physical activity modification; orthopedic insole/orthotic use; NSAID therapy; immobilization/casting; arthroscopic debridement; microfracture surgery; osteotomy; osteochondral graft transplantation; arthroplasty | (liu2024footpainin pages 8-10, kim2024shorttermoutcomesof pages 1-2, schade2015surgicalmanagementof pages 1-2, kim2020comparisonofosteochondral pages 7-7, kim2024shorttermoutcomesof pages 2-6, kim2024shorttermoutcomesof pages 6-7) |
| Köhler disease | Radiographs are the diagnostic method of choice; ultrasound can show unsmooth/bumpy/fragmented or deformed navicular ossification center; CT or MRI if symptoms fail to improve or more detail is needed | No formal staging/classification identified in retrieved context | Rest, ice, firm-soled shoes, arch supports, non-weight-bearing crutches, immobilization with cast (~6 weeks) or controlled-ankle-motion shoe, NSAIDs | Usually no surgery indicated; refractory pediatric cases reported with navicular decompression and microcirculation reconstruction | Disease is self-limiting; bilateral involvement reported in up to 25% (diagnostic/epidemiologic statistic). Small surgical series: 3 pediatric patients had pain resolution within 3 months and restoration of navicular density after decompression/microcirculation reconstruction (liu2024footpainin pages 1-2, maruszczak2024lowerlimbosteochondrosis pages 9-10) | MAXO: rest; cryotherapy; shoe modification; arch support; assistive device use/crutches; non-weight-bearing; cast immobilization; NSAID therapy; navicular decompression surgery | (liu2024footpainin pages 1-2, maruszczak2024lowerlimbosteochondrosis pages 9-10) |
| Müller-Weiss disease | Radiographs showing osteophytes, sclerosis/condensation, fragmentation, dorsolateral navicular fragmentation; MRI when radiographs are equivocal and for osteonecrosis-like changes; functional assessment often with AOFAS and VAS in studies | Early vs advanced stages referenced; early stages noted as S1-S2 in review context, but no full staging scheme provided in retrieved text | Conservative treatment may be used in early stages; reported as giving acute symptomatic improvement and favorable evaluation in S1-S2; biomechanical offloading considerations implied by altered plantar pressures | Arthrodesis most common (isolated talonavicular, double, triple/perinavicular), calcaneal osteotomy, grafting | Systematic review included 17 studies with 134 patients (138 feet); ages 28-69 years; most >40 years; females ~70%; conservative treatment favorable in early S1-S2, surgery preferred in remaining stages; outcomes commonly measured with AOFAS and VAS, but pooled quantitative response rates not available in retrieved context (goncalvesdos2024necrosisavasculardel pages 2-4). Another review states isolated talonavicular arthrodesis gives good results in early stages, with double/triple arthrodesis used in advanced disease (goncalvesdos2024necrosisavasculardel pages 1-2, santos2024avascularnecrosisof pages 1-2) | MAXO: activity modification; analgesic/NSAID therapy; orthotic/offloading support; talonavicular arthrodesis; double arthrodesis; triple arthrodesis; calcaneal osteotomy; bone grafting | (goncalvesdos2024necrosisavasculardel pages 1-2, goncalvesdos2024necrosisavasculardel pages 2-4, santos2024avascularnecrosisof pages 1-2) |
Table: This table summarizes diagnostic approaches, staging systems, conservative care, surgical options, and reported outcomes for Freiberg disease, Köhler disease, and Müller-Weiss disease. It is useful for comparing how these related tarsal/metatarsal osteochondroses are diagnosed and managed in current evidence.
A cropped outcome table and outcome figure from the 2024 arthroscopic Freiberg series provide visual confirmation of the AOFAS/VAS/ROM improvements summarized in Artifact-02. (kim2024shorttermoutcomesof media 28b80a18, kim2024shorttermoutcomesof media 2d3231ac)
No disease-specific primary prevention programs or screening protocols were identified in the retrieved evidence set. Practical prevention concepts implied by etiology include load management / activity modification and early evaluation of persistent forefoot/midfoot pain in at-risk groups (adolescent athletes; active children; adults with chronic midfoot pain). (liu2024footpainin pages 8-10, maruszczak2024lowerlimbosteochondrosis pages 9-10, goncalvesdos2024necrosisavasculardel pages 2-4)
No veterinary/natural disease evidence specific to these tarsal/metatarsal entities was retrieved in this run.
No model-organism–based mechanistic studies specific to these entities were retrieved in this run.
PMID note: PMIDs were not present in the retrieved text excerpts for these articles; therefore PMID-based citations could not be provided from the available evidence context.
References
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(kim2024shorttermoutcomesof media 28b80a18): Jong-Kil Kim, Do-Yeon Kim, Jong-Sung Oh, Dong-ill Ko, and Kwang-Bok Lee. Short-term outcomes of arthroscopic treatment of freiberg disease. Journal of the American Podiatric Medical Association, May 2024. URL: https://doi.org/10.7547/22-025, doi:10.7547/22-025. This article has 0 citations and is from a peer-reviewed journal.
(kim2024shorttermoutcomesof media 2d3231ac): Jong-Kil Kim, Do-Yeon Kim, Jong-Sung Oh, Dong-ill Ko, and Kwang-Bok Lee. Short-term outcomes of arthroscopic treatment of freiberg disease. Journal of the American Podiatric Medical Association, May 2024. URL: https://doi.org/10.7547/22-025, doi:10.7547/22-025. This article has 0 citations and is from a peer-reviewed journal.