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Humeroradial Synostosis

1. Disease Information

2026-06-17
Falcon MONDO:0007737 Model: Edison Scientific Literature 32 citations

1. Disease Information

1.1 Definition / current understanding

  • Definition: Congenital osseous (and sometimes initially cartilaginous) fusion between humerus and radius at the elbow (humeroradial/radiohumeral synostosis), producing absent elbow motion and severe stiffness. Nema et al. describe the developmental basis directly: “These anomalies are due to longitudinal failure of differentiation.” (Malaysian Orthopaedic Journal; 2012-11; https://doi.org/10.5704/moj.1211.010) (nema2012congenitalhumeroradialsynostosis pages 1-2)
  • Functional impact: Disability varies with hand function and the fixed elbow position; Oliveira et al. state in their abstract: “At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints mobility and contralateral limb function.” (Revista Brasileira de Ortopedia; 2023-12; https://doi.org/10.1055/s-0040-1716757) (oliveira2023fraturaemsinostose pages 1-3)

1.2 Key identifiers (from retrieved evidence)

  • MONDO: MONDO:0007737 (“humeroradial synostosis”) (Open Targets) (OpenTargets Search: Humeroradial synostosis)
  • MONDO (related): MONDO:0009356 (“autosomal recessive humeroradial synostosis”) (Open Targets) (OpenTargets Search: Humeroradial synostosis)
  • Orphanet: Orphanet:3265 (“Humero-radial synostosis”) (Open Targets) (OpenTargets Search: Humeroradial synostosis)

Not located in the retrieved corpus: OMIM number(s), ICD-10/ICD-11 codes, MeSH terms. These may exist in external databases, but were not accessible in the current tool-retrieved documents. (OpenTargets Search: Humeroradial synostosis)

1.3 Synonyms / alternative names (supported by usage in retrieved sources)

1.4 Evidence sources (patient-level vs aggregated)

2. Etiology

2.1 Disease causal factors

Primary causal factor category: congenital developmental malformation of joint segmentation and longitudinal differentiation. * Nema et al.: “These anomalies are due to longitudinal failure of differentiation.” (2012-11; https://doi.org/10.5704/moj.1211.010) (nema2012congenitalhumeroradialsynostosis pages 1-2)

Genetic (Mendelian) etiologies are best established for syndromic presentations with multiple synostoses and/or craniosynostosis (see Section 4).

2.2 Risk factors

Genetic risk factors / causal genes (syndromic forms)

Environmental risk factors

  • In the context of ulnar hemimelia with humeroradial synostosis, Aggarwal et al. mention possible teratogens: “environmental teratogens (smoking, cocaine, teratogenic drugs)” as possible contributors during early embryogenesis (critical period days 24–36). This is suggestive rather than definitive causal evidence. (aggarwal2020ulnarhemimeliawith pages 1-2)
  • Retinoic acid exposure is explicitly framed as teratogenic alongside genetic defects in RA degradation: “Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton.” (Grand et al., 2021-06; https://doi.org/10.1002/ajmg.a.62387) (grand2021nonlethalpresentationsof pages 1-2)

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved evidence.

2.4 Gene–environment interactions

The retrieved evidence supports a conceptual interaction for RA pathway perturbation: exogenous RA exposure and impaired endogenous RA catabolism (CYP26B1) both converge on skeletal teratogenesis. However, explicit gene–environment interaction studies were not identified in the retrieved corpus. (grand2021nonlethalpresentationsof pages 1-2, morton2016biallelicmutationsin pages 1-3)

3. Phenotypes (clinical features)

3.1 Core phenotypes (isolated/non-syndromic presentations)

Illustrative imaging evidence: Radiograph of bilateral humeroradial synostosis (Figure 2) in Nema et al. (2012). (nema2012congenitalhumeroradialsynostosis media 40ab23af)

3.2 Common phenotypes in ulnar longitudinal deficiency / ulnar hemimelia–associated cases

These descriptions are frequently reported in Bayne type IV ulnar hemimelia, where humeroradial synostosis is a defining feature. * Absent/hypoplastic ulna (UBERON:0001424, ulna) and “single forearm bone” appearance. (aggarwal2020ulnarhemimeliawith pages 1-2, laique2024unilateralcompleteulnar pages 1-3) * Oligodactyly/tridactyly and carpal abnormalities: Laique reports Swanson et al. summary statistics (see §9) and describes three-digit hands and reduced carpals. (laique2024unilateralcompleteulnar pages 1-3) * Wrist deviation and forearm shortening/micromelia: ulnar deviation/drift and shortened forearm are repeatedly described. (aggarwal2020ulnarhemimeliawith pages 1-2, laique2024unilateralcompleteulnar pages 1-3)

3.3 Syndromic phenotype expansions (multiple synostoses and CYP26B1-related)

3.4 Phenotype ontology suggestions (HPO)

(These are suggested mappings based on described features; formal HPO curation would require confirmation against HPO definitions.) * Humeroradial synostosis / radiohumeral synostosis → HP:0003048 (Synostosis) + limb-specific synostosis term if available (e.g., elbow synostosis/radioulnar synostosis terms). (nema2012congenitalhumeroradialsynostosis pages 1-2) * Fixed elbow flexion/extension contracture → HP:0002986 (Elbow flexion contracture) or HP:0002996 (Elbow joint contracture). (nema2012congenitalhumeroradialsynostosis pages 1-2) * Oligodactyly → HP:0001180 (Oligodactyly). (aggarwal2020ulnarhemimeliawith pages 1-2, laique2024unilateralcompleteulnar pages 1-3) * Ulnar aplasia/hypoplasia → HP:0003021 (Ulnar hypoplasia/aplasia). (aggarwal2020ulnarhemimeliawith pages 1-2, laique2024unilateralcompleteulnar pages 1-3) * Craniosynostosis (syndromic forms) → HP:0001363 (Craniosynostosis). (morton2016biallelicmutationsin pages 1-3, grand2021nonlethalpresentationsof pages 1-2) * Conductive hearing loss (some synostosis syndromes) → HP:0000405 (Conductive hearing loss). (grand2021nonlethalpresentationsof pages 1-2, schmetz2023fgf9associatedmultiplesynostoses pages 1-2)

3.5 Quality of life impact

No disease-specific EQ-5D/SF-36/PROMIS data were identified. Functional impact is described qualitatively (ADLs and disability dependence on elbow/hand positioning). (nema2012congenitalhumeroradialsynostosis pages 1-2, oliveira2023fraturaemsinostose pages 1-3)

4. Genetic / Molecular Information

4.1 Causal genes and molecular subtypes (current understanding from retrieved sources)

A. Multiple synostoses syndromes (autosomal dominant, genetically heterogeneous) * Terhal et al. summarize that SYNS subtypes involve NOG (SYNS1), GDF5 (SYNS2), FGF9 (SYNS3), and GDF6 (SYNS4), and emphasize a convergent mechanism involving BMP signaling dysregulation (loss of antagonism or ligand resistance). (terhal2018furtherdelineationof pages 1-2)

B. FGF9-associated SYNS3 (autosomal dominant) * Schmetz et al. (2023-03; https://doi.org/10.3390/genes14030724) report a novel heterozygous variant FGF9 c.430T>C, p.(Trp144Arg) in a large multigenerational family and propose expanding SYNS3 to include cleft palate and conductive hearing loss. (schmetz2023fgf9associatedmultiplesynostoses pages 1-2, schmetz2023fgf9associatedmultiplesynostoses pages 7-10) * Sentchordi-Montané et al. describe SYNS3 as “characterized by limitation and/or fusion of joints in hands and feet, humeroradial and lumbar joints synostosis, and with or without craniosynostosis.” (Clinical Genetics; 2021-11; https://doi.org/10.1111/cge.13876) (sentchordi‐montane2021identificationofthe pages 1-7)

C. CYP26B1-related craniosynostosis/multiple synostoses (autosomal recessive) * Morton et al. (2016-07; https://doi.org/10.1002/ajmg.a.37804) report a consanguineous family with homozygous CYP26B1 c.1303G>A; p.(Gly435Ser) and radiographs suggesting radiohumeral joint fusion/synostosis, emphasizing CYP26B1’s role in RA catabolism. (morton2016biallelicmutationsin pages 1-3, morton2016biallelicmutationsin pages 3-4) * Grand et al. (2021-06; https://doi.org/10.1002/ajmg.a.62387) extend viable phenotypes with compound heterozygous variants and note imaging features including radioulnar synostosis and carpal/tarsal fusions; the abstract states: “Retinoic acid exposures as well as defects in the retinoic acid‐degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton.” (grand2021nonlethalpresentationsof pages 1-2)

4.2 Variant spectrum and functional consequences (as supported by retrieved evidence)

Population frequencies: Schmetz et al. note FGF9 p.Trp144Arg was absent from population databases; no gnomAD allele frequencies were retrieved in the corpus. (schmetz2023fgf9associatedmultiplesynostoses pages 7-10)

4.3 Modifier genes / epigenetics

No modifier gene or disease-specific epigenetic evidence was identified in the retrieved corpus.

5. Environmental Information

6. Mechanism / Pathophysiology

6.1 Mechanistic themes (upstream → downstream causal chain)

Theme 1: failure of longitudinal differentiation / joint segmentation * Clinical framing: congenital humeroradial synostosis is attributed to a developmental segmentation defect: “longitudinal failure of differentiation.” (nema2012congenitalhumeroradialsynostosis pages 1-2) * Downstream: absent elbow joint space, fixed elbow posture, and compensatory reliance on adjacent joints; functional limitations depend on fixed position and hand function. (oliveira2023fraturaemsinostose pages 1-3, nema2012congenitalhumeroradialsynostosis pages 1-2)

Theme 2: retinoic acid (RA) gradient disruption (CYP26B1) * Upstream trigger: biallelic CYP26B1 variants impair RA catabolism; Morton et al. note CYP26B1 is “responsible for the catabolism of retinoic acid” during embryonic development. (morton2016biallelicmutationsin pages 1-3) * Intermediate mechanism: skeletal boundary definition and joint-space formation may fail under elevated/local RA; Morton et al. cite that anomalies relate to CYP26B1’s role “in defining boundaries for cartilaginous growth, especially in defining joint spaces.” (morton2016biallelicmutationsin pages 4-5) * Downstream manifestations: craniosynostosis and elbow/radiohumeral synostosis/fusion. (morton2016biallelicmutationsin pages 3-4)

Theme 3: BMP/FGF signaling imbalance in multiple synostoses syndromes * Terhal et al. describe a shared mechanism across SYNS subtypes involving increased BMP signaling (e.g., loss of NOG antagonism or ligand resistance). (terhal2018furtherdelineationof pages 1-2) * FGF9 variants can impair dimerization and change diffusion, producing ectopic signaling and joint fusions in mouse models; Schmetz et al. cite mouse Eks work connecting altered FGF9 to elbow joint fusion, supporting a developmental signaling basis. (schmetz2023fgf9associatedmultiplesynostoses pages 1-2)

6.2 Ontology suggestions

GO Biological Process (examples): * Limb development / pattern specification processes (based on HOX/RA/FGF/BMP involvement) (nema2012congenitalhumeroradialsynostosis pages 1-2, morton2016biallelicmutationsin pages 3-4, terhal2018furtherdelineationof pages 1-2) * Joint morphogenesis / cartilage development / bone development (morton2016biallelicmutationsin pages 4-5)

Cell Ontology (CL) suggestions: * Chondrocyte (cartilage-forming cell) and osteoblast lineage cells are implicated by joint space/cartilage boundary discussion and osteoblast–osteocyte transition. (morton2016biallelicmutationsin pages 4-5, morton2016biallelicmutationsin pages 3-4)

UBERON anatomy suggestions: * Elbow joint (UBERON:0001460), humerus (UBERON:0000976), radius (UBERON:0001423), ulna (UBERON:0001424), carpal bones (UBERON:0001446), tarsal bones (UBERON:0001449), cranial sutures (craniosynostosis contexts). (oliveira2023fraturaemsinostose pages 1-3, grand2021nonlethalpresentationsof pages 1-2)

7. Anatomical Structures Affected

Organ/tissue focus

Laterality

8. Temporal Development

9. Inheritance and Population

9.1 Epidemiology

Note: This is a literature count estimate (not a population-based prevalence/incidence).

9.2 Ulnar hemimelia context (often co-occurring with humeroradial synostosis)

  • Laique reports incidence for ulnar hemimelia as “approximately 1 in 100,000 to 150,000 live births” and includes Swanson et al. summary statistics: 53.4% associated with humero-radial synostosis and ~90% with 1–4 digits. (laique2024unilateralcompleteulnar pages 1-3)

9.3 Inheritance patterns

10. Diagnostics

10.1 Clinical evaluation and imaging

10.2 Genetic testing approach (evidence-based suggestions from retrieved sources)

No formal guideline was retrieved, but the evidence supports a pragmatic approach: 1. Phenotype-first classification: isolated vs associated ulnar longitudinal deficiency vs multi-joint synostosis/craniosynostosis. (aggarwal2020ulnarhemimeliawith pages 2-3, oliveira2023fraturaemsinostose pages 1-3) 2. If syndromic/multiple joint fusions: test NOG, GDF5, FGF9, GDF6 (SYNS genes). (terhal2018furtherdelineationof pages 1-2, schmetz2023fgf9associatedmultiplesynostoses pages 1-2, sentchordi‐montane2021identificationofthe pages 1-7) 3. If craniosynostosis + synostoses with suspected RA dysregulation: include CYP26B1 (biallelic disease), especially in consanguinity. (morton2016biallelicmutationsin pages 1-3, grand2021nonlethalpresentationsof pages 1-2)

10.3 Differential diagnosis (examples explicitly noted)

11. Outcome / Prognosis

  • Life expectancy: not defined for isolated humeroradial synostosis in retrieved sources; many individuals adapt.
  • Functional prognosis: strongly dependent on elbow position and hand function; Nema states: “Most of these patients do well if the elbow is in a functional position.” (nema2012congenitalhumeroradialsynostosis pages 1-2)
  • Syndromic prognosis: Grand et al. broaden viability for CYP26B1-related disease, from perinatal lethality to adult survival, depending on variant severity/location. (grand2021nonlethalpresentationsof pages 1-2)

12. Treatment

12.1 General principles (real-world implementations)

Conservative-first when function acceptable * Nema recommends observation: “Our recommendation is one of careful observation of the patient’s function; if necessary an osteotomy could be performed to obtain a more functional position of the elbows.” (2012-11; https://doi.org/10.5704/moj.1211.010) (nema2012congenitalhumeroradialsynostosis pages 1-2)

Avoid synostosis resection for motion restoration (high recurrence) * Nema: “There is a high reoccurrence rate of synostosis following surgical treatment… [often] no firm indication for surgical intervention.” (nema2012congenitalhumeroradialsynostosis pages 1-2) * Oliveira reports poor outcomes after attempted resection: “completa recidiva da sinostose” after resection and fat interposition (cited as reported). (oliveira2023fraturaemsinostose pages 5-6)

Positional osteotomy * For disabling internal rotation deformity, Oliveira cites recommendations for external rotational osteotomy of the humerus (Miller & James). (oliveira2023fraturaemsinostose pages 5-6)

Physiotherapy / splinting in ulnar-deficiency cases * Early physiotherapy and non-surgical measures (stretching, splinting/casting, prostheses) are described in ulnar hemimelia-associated presentations. (aggarwal2020ulnarhemimeliawith pages 2-3, laique2024unilateralcompleteulnar pages 3-4)

12.2 Fracture management through a synostotic “single bone” (2023 practice examples)

Oliveira et al. (2023-12; https://doi.org/10.1055/s-0040-1716757) describe two fracture cases and emphasize preserving baseline adapted function. * Abstract quote: “Both patients were treated surgically with success… [to] not compromise the daily activities of patients who are adapted to their deformity.” (oliveira2023fraturaemsinostose pages 1-3) * They note fractures in this topography had “only described twice” previously and provide operative fixation strategies (intramedullary wires or plate fixation) with return to activities by ~4 months in one case. (oliveira2023fraturaemsinostose pages 3-5, oliveira2023fraturaemsinostose pages 5-6)

12.3 MAXO (Medical Action Ontology) suggestions

(Conceptual mappings; exact MAXO IDs not retrieved.) * Physical therapy / stretching (aggarwal2020ulnarhemimeliawith pages 2-3, laique2024unilateralcompleteulnar pages 3-4) * Orthopedic osteotomy (humeral rotational osteotomy) (oliveira2023fraturaemsinostose pages 5-6) * Orthopedic internal fixation of fracture (oliveira2023fraturaemsinostose pages 3-5) * Surgical soft tissue reconstruction (e.g., Z-plasty for cubital fossa webbing) (laique2024unilateralcompleteulnar pages 3-4)

12.4 Pharmacotherapy / advanced therapeutics

No disease-modifying pharmacotherapy, gene therapy, or RNA-based trials were identified for humeroradial synostosis in the retrieved corpus.

13. Prevention

  • For Mendelian syndromic forms (FGF9/GDF6/NOG/GDF5; CYP26B1), primary prevention is largely genetic counseling and reproductive options (prenatal testing/PGT), but specific guideline documents were not retrieved.
  • Avoidance of teratogenic retinoids/RA exposure is biologically plausible and consistent with RA teratogenesis statements, but direct prevention trials are not available in retrieved sources. (grand2021nonlethalpresentationsof pages 1-2)

14. Other Species / Natural Disease

No naturally occurring veterinary analogs were identified in the retrieved evidence.

15. Model Organisms

15.1 Mouse models relevant to limb/elbow synostosis mechanisms

  • Fgf9 Eks mouse model: Schmetz et al. cite that the mouse Eks mutation impairs FGF9 homodimerization, increases diffusion and leads to ectopic signaling with “elbow joint fusion” in heterozygotes, supporting causality between altered FGF9 signaling and elbow-region synostosis. (schmetz2023fgf9associatedmultiplesynostoses pages 1-2)
  • Cyp26b1 knockout mouse: Grand et al. note that knockout mice show skeletal/craniofacial phenotypes including “radiohumeral synostosis” and reduced calvarial ossification, supporting an RA-gradient mechanism for joint boundary formation. (grand2021nonlethalpresentationsof pages 4-5)

Recent developments (prioritizing 2023–2024)

  1. Expanded SYNS3 phenotype and new pathogenic FGF9 variant (2023): Schmetz et al. report a large family (29 affected) with FGF9 c.430T>C p.(Trp144Arg) and propose inclusion of cleft palate and conductive hearing loss in SYNS3; they also quantify elbow involvement as a highly penetrant feature (reported as ~94% on provided pages). (2023-03; https://doi.org/10.3390/genes14030724) (schmetz2023fgf9associatedmultiplesynostoses pages 1-2, schmetz2023fgf9associatedmultiplesynostoses pages 7-10)
  2. Orthopedic management in rare fracture scenario (2023): Oliveira et al. provide modern surgical fixation approaches for fractures through the synostotic segment, emphasizing function preservation for patients adapted to congenital deformity. (2023-12; https://doi.org/10.1055/s-0040-1716757) (oliveira2023fraturaemsinostose pages 3-5, oliveira2023fraturaemsinostose pages 1-3)
  3. New ulnar hemimelia-associated case report (2024): Laique reports a unilateral complete ulnar hemimelia with class I humeroradial synostosis and summarizes incidence and Swanson et al. series-level frequencies relevant to synostosis association and digit number distributions. (2024; journal not captured in retrieved text) (laique2024unilateralcompleteulnar pages 1-3)

Data gaps and limitations of this tool-based review

  • OMIM/ICD/MeSH identifiers and PMIDs were not present in the retrieved text corpus; citations here therefore emphasize DOI/URL and publication month/year as captured.
  • Many frequency figures (e.g., Swanson et al.) are cited second-hand within case reports/reviews rather than retrieved as original primary series.
  • No robust population prevalence/incidence estimates specific to humeroradial synostosis (distinct from ulnar hemimelia) were retrieved.

Key cited sources (URLs and dates)

References

  1. (nema2012congenitalhumeroradialsynostosis pages 1-2): Sandeep Nema, G S Vyas, Ashish Sirsikar, and Praveen K Bhoj. Congenital humeroradial synostosis: a case report. Malaysian Orthopaedic Journal, 6:41-42, Nov 2012. URL: https://doi.org/10.5704/moj.1211.010, doi:10.5704/moj.1211.010. This article has 13 citations.

  2. (oliveira2023fraturaemsinostose pages 1-3): Ricardo Kaempf de Oliveira, João Pedro Farina Brunelli, Márcio Aurelio Aita, and Pedro José Delgado Serrano. Fratura em sinostose rádio-umeral: descrição de dois casos clínicos. Revista Brasileira de Ortopedia, 58:532-537, Dec 2023. URL: https://doi.org/10.1055/s-0040-1716757, doi:10.1055/s-0040-1716757. This article has 0 citations.

  3. (aggarwal2020ulnarhemimeliawith pages 2-3): AK Aggarwal, KKS Khan, and A Sood. Ulnar hemimelia with humero-radial synostosis and oligodactyly: a rarity and review of literature. Unknown journal, 2020.

  4. (grand2021nonlethalpresentationsof pages 1-2): Katheryn Grand, Cara M. Skraban, Jennifer L. Cohen, Leah Dowsett, Sarah Mazzola, Jennifer Tarpinian, Emma Bedoukian, Addie Nesbitt, Beth Denenberg, Lauren Lulis, Avni Santani, Elaine H. Zackai, and Matthew A. Deardorff. Nonlethal presentations of cyp26b1‐related skeletal anomalies and multiple synostoses syndrome. American Journal of Medical Genetics Part A, 185:2766-2775, Jun 2021. URL: https://doi.org/10.1002/ajmg.a.62387, doi:10.1002/ajmg.a.62387. This article has 17 citations.

  5. (terhal2018furtherdelineationof pages 1-2): Paulien A. Terhal, Nienke E. Verbeek, Nine Knoers, Rutger J. A. J. Nievelstein, Ans van den Ouweland, Ralph J. Sakkers, Lucienne Speleman, and Gijs van Haaften. Further delineation of the gdf6 related multiple synostoses syndrome. American Journal of Medical Genetics Part A, 176:225-229, Jan 2018. URL: https://doi.org/10.1002/ajmg.a.38503, doi:10.1002/ajmg.a.38503. This article has 15 citations.

  6. (schmetz2023fgf9associatedmultiplesynostoses pages 1-2): Ariane Schmetz, Jörg Schaper, Simon Thelen, Majeed Rana, Thomas Klenzner, Katharina Schaumann, Jasmin Beygo, Harald Surowy, Hermann-Josef Lüdecke, and Dagmar Wieczorek. Fgf9-associated multiple synostoses syndrome type 3 in a multigenerational family. Genes, 14:724, Mar 2023. URL: https://doi.org/10.3390/genes14030724, doi:10.3390/genes14030724. This article has 4 citations.

  7. (sentchordi‐montane2021identificationofthe pages 1-7): Lucia Sentchordi‐Montané, Francisca Diaz‐Gonzalez, Elena V. Cátedra‐Vallés, and Karen E. Heath. Identification of the third fgf9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of fgf9 variants in humans and mice. Nov 2021. URL: https://doi.org/10.1111/cge.13876, doi:10.1111/cge.13876. This article has 12 citations and is from a peer-reviewed journal.

  8. (morton2016biallelicmutationsin pages 1-3): Jenny E. V. Morton, Sophia Frentz, Tim Morgan, Andrew J. Sutherland‐Smith, and Stephen P. Robertson. Biallelic mutations in cyp26b1: a differential diagnosis for pfeiffer and antley–bixler syndromes. American Journal of Medical Genetics Part A, 170:2706-2710, Jul 2016. URL: https://doi.org/10.1002/ajmg.a.37804, doi:10.1002/ajmg.a.37804. This article has 29 citations.

  9. (morton2016biallelicmutationsin pages 3-4): Jenny E. V. Morton, Sophia Frentz, Tim Morgan, Andrew J. Sutherland‐Smith, and Stephen P. Robertson. Biallelic mutations in cyp26b1: a differential diagnosis for pfeiffer and antley–bixler syndromes. American Journal of Medical Genetics Part A, 170:2706-2710, Jul 2016. URL: https://doi.org/10.1002/ajmg.a.37804, doi:10.1002/ajmg.a.37804. This article has 29 citations.

  10. (schmetz2023fgf9associatedmultiplesynostoses pages 7-10): Ariane Schmetz, Jörg Schaper, Simon Thelen, Majeed Rana, Thomas Klenzner, Katharina Schaumann, Jasmin Beygo, Harald Surowy, Hermann-Josef Lüdecke, and Dagmar Wieczorek. Fgf9-associated multiple synostoses syndrome type 3 in a multigenerational family. Genes, 14:724, Mar 2023. URL: https://doi.org/10.3390/genes14030724, doi:10.3390/genes14030724. This article has 4 citations.

  11. (oliveira2023fraturaemsinostose pages 5-6): Ricardo Kaempf de Oliveira, João Pedro Farina Brunelli, Márcio Aurelio Aita, and Pedro José Delgado Serrano. Fratura em sinostose rádio-umeral: descrição de dois casos clínicos. Revista Brasileira de Ortopedia, 58:532-537, Dec 2023. URL: https://doi.org/10.1055/s-0040-1716757, doi:10.1055/s-0040-1716757. This article has 0 citations.

  12. (oliveira2023fraturaemsinostose pages 3-5): Ricardo Kaempf de Oliveira, João Pedro Farina Brunelli, Márcio Aurelio Aita, and Pedro José Delgado Serrano. Fratura em sinostose rádio-umeral: descrição de dois casos clínicos. Revista Brasileira de Ortopedia, 58:532-537, Dec 2023. URL: https://doi.org/10.1055/s-0040-1716757, doi:10.1055/s-0040-1716757. This article has 0 citations.

  13. (OpenTargets Search: Humeroradial synostosis): Open Targets Query (Humeroradial synostosis, 3 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

  14. (laique2024unilateralcompleteulnar pages 1-3): K Laique. Unilateral complete ulnar hemimelia with class i humero-radial synostosis and tri-dactyly having soft tissue symphalangism, a …. Unknown journal, 2024.

  15. (aggarwal2020ulnarhemimeliawith pages 1-2): AK Aggarwal, KKS Khan, and A Sood. Ulnar hemimelia with humero-radial synostosis and oligodactyly: a rarity and review of literature. Unknown journal, 2020.

  16. (nema2012congenitalhumeroradialsynostosis media 40ab23af): Sandeep Nema, G S Vyas, Ashish Sirsikar, and Praveen K Bhoj. Congenital humeroradial synostosis: a case report. Malaysian Orthopaedic Journal, 6:41-42, Nov 2012. URL: https://doi.org/10.5704/moj.1211.010, doi:10.5704/moj.1211.010. This article has 13 citations.

  17. (morton2016biallelicmutationsin pages 4-5): Jenny E. V. Morton, Sophia Frentz, Tim Morgan, Andrew J. Sutherland‐Smith, and Stephen P. Robertson. Biallelic mutations in cyp26b1: a differential diagnosis for pfeiffer and antley–bixler syndromes. American Journal of Medical Genetics Part A, 170:2706-2710, Jul 2016. URL: https://doi.org/10.1002/ajmg.a.37804, doi:10.1002/ajmg.a.37804. This article has 29 citations.

  18. (grand2021nonlethalpresentationsof pages 4-5): Katheryn Grand, Cara M. Skraban, Jennifer L. Cohen, Leah Dowsett, Sarah Mazzola, Jennifer Tarpinian, Emma Bedoukian, Addie Nesbitt, Beth Denenberg, Lauren Lulis, Avni Santani, Elaine H. Zackai, and Matthew A. Deardorff. Nonlethal presentations of cyp26b1‐related skeletal anomalies and multiple synostoses syndrome. American Journal of Medical Genetics Part A, 185:2766-2775, Jun 2021. URL: https://doi.org/10.1002/ajmg.a.62387, doi:10.1002/ajmg.a.62387. This article has 17 citations.

  19. (razavipour2019sporadicandnonsyndromic pages 3-4): M Razavipour, MS Azar, and MH Kariminasab. Sporadic and non-syndromic bilateral humeroradial synostosis: a case report. Unknown journal, 2019.

  20. (grand2021nonlethalpresentationsof pages 6-7): Katheryn Grand, Cara M. Skraban, Jennifer L. Cohen, Leah Dowsett, Sarah Mazzola, Jennifer Tarpinian, Emma Bedoukian, Addie Nesbitt, Beth Denenberg, Lauren Lulis, Avni Santani, Elaine H. Zackai, and Matthew A. Deardorff. Nonlethal presentations of cyp26b1‐related skeletal anomalies and multiple synostoses syndrome. American Journal of Medical Genetics Part A, 185:2766-2775, Jun 2021. URL: https://doi.org/10.1002/ajmg.a.62387, doi:10.1002/ajmg.a.62387. This article has 17 citations.

  21. (laique2024unilateralcompleteulnar pages 3-4): K Laique. Unilateral complete ulnar hemimelia with class i humero-radial synostosis and tri-dactyly having soft tissue symphalangism, a …. Unknown journal, 2024.

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