| Clinical feature (plain language) | Suggested HPO term (HP:ID + label) | Evidence/notes | Typical onset | System |
|---|---|---|---|---|
| Absent or severely underdeveloped tibia | HP:0009736 Tibial aplasia / HP:0009766 Tibial hypoplasia | Core defining feature of BPTAS; Mensah 2023: all five individuals had “short and malformed lower limbs characterized by tibia aplasia or hypoplasia”; Bernardi 2009 also describes “agenesis of the tibiae” / “absent/hypoplastic tibiae” (pqac-00000000, pqac-00000003, pqac-00000005) | Congenital | Skeletal |
| Preaxial extra toes/fingers, often with fusion | HP:0100258 Preaxial polydactyly / HP:0001159 Syndactyly | Mensah 2023: all five had “preaxial polysyndactyly”; Bernardi 2009 repeatedly reports bilateral preaxial polydactyly of the feet and notes some cases were described as “mirror” polydactyly (pqac-00000000, pqac-00000001, pqac-00000003) | Congenital | Skeletal |
| Short finger bones / short digits | HP:0009823 Brachydactyly / HP:0009843 Brachyphalangy | Hallmark feature in syndrome name; Mensah 2023: upper-limb findings included “brachydactyly or brachyphalangy of fingers with an irregular finger length”; Bernardi 2009: “The hands were short with brachydactyly” (pqac-00000000, pqac-00000005) | Congenital | Skeletal |
| Irregular finger length pattern | HP:0011304 Abnormality of finger / HP:0009381 Short phalanx of finger | Mensah 2023 explicitly notes “irregular finger length”; likely reflects disproportionate phalangeal shortening, especially middle phalanges (pqac-00000000, pqac-00000003) | Congenital | Skeletal |
| Short radius and ulna | HP:0006505 Abnormality of radius / HP:0006495 Abnormality of ulna | Mensah 2023: “Short radius and ulna ... in four of five”; Bernardi 2009 also reports short radius and ulna in arms (pqac-00000000, pqac-00000003) | Congenital | Skeletal |
| Large-joint contractures | HP:0001371 Flexion contracture / HP:0002829 Arthrogryposis multiplex congenita (broad related term) | Mensah 2023: all five had lower-limb malformations with “contractures of large joints”; elbow contractures/pterygia were present in 4/5 (pqac-00000000) | Congenital | Skeletal |
| Elbow pterygia or elbow contractures | HP:0009769 Elbow pterygium / HP:0003040 Elbow contracture | Mensah 2023: “Short radius and ulna and contractures or pterygia of the elbow joints” in 4/5 (pqac-00000000) | Congenital | Skeletal |
| Short femora and fibulae | HP:0003097 Short femur / HP:0003084 Fibular hypoplasia | Bernardi 2009: hallmark limb pattern included “short fibulae and femurs”; Mensah 2023 also mentions hypoplastic fibulae in detailed clinical findings (pqac-00000002, pqac-00000003) | Congenital | Skeletal |
| Short metacarpals and shortened middle phalanges | HP:0010049 Short metacarpal / HP:0009803 Short middle phalanx of the finger | Bernardi 2009: “short metacarpals and phalanges (especially ... middle phalanges...)”; Mensah 2023 similarly notes short tubular bones with middle phalanges preferentially affected (pqac-00000002, pqac-00000003) | Congenital | Skeletal |
| Reduced palmar creases | HP:0006207 Single transverse palmar crease / HP:0006112 Abnormal palmar creases | Mensah 2023 detailed phenotype notes “reduced palmar creases” (pqac-00000002) | Congenital | Skeletal |
| Hypoplastic or absent nails | HP:0001804 Nail hypoplasia / HP:0001798 Anonychia | Mensah 2023 reports “hypoplastic or missing nails”; Bernardi 2009 notes hypoplastic nails in the mother of the proband, supporting variable expression (pqac-00000002, pqac-00000004) | Congenital | Skeletal |
| Pelvic/iliac hypoplasia | HP:0003173 Hypoplasia of the ilium | Mensah 2023 detailed findings include pelvic/iliac hypoplasia (pqac-00000002) | Congenital | Skeletal |
| Retarded bone age | HP:0002750 Delayed skeletal maturation | Mensah 2023 detailed findings include “retarded bone age” (pqac-00000002) | Congenital / infancy-childhood recognition | Skeletal |
| Characteristic ear anomalies | HP:0000377 Abnormality of the pinna | Bernardi 2009 review of prior cases lists “malformed ears” among common non-skeletal findings (pqac-00000001) | Congenital | Craniofacial |
| Blepharophimosis | HP:0000581 Blepharophimosis | Reported among commonly described craniofacial features in Bernardi 2009 (pqac-00000001) | Congenital | Craniofacial |
| Hypertelorism / telecanthus | HP:0000316 Hypertelorism / HP:0000506 Telecanthus | Bernardi 2009 summarizes prior cases with “hypertelorism/telecanthus” (pqac-00000001) | Congenital | Craniofacial |
| Micrognathia or retrognathia | HP:0000347 Micrognathia / HP:0000278 Retrognathia | Bernardi 2009 lists “micro/retrognathia” as recurrent craniofacial findings (pqac-00000001) | Congenital | Craniofacial |
| Microcephaly | HP:0000252 Microcephaly | Bernardi 2009 lists microcephaly among common non-skeletal findings; Mensah 2023 broadly notes craniofacial and neurological features (pqac-00000000, pqac-00000001) | Congenital | Craniofacial / Neurodevelopment |
| Carp-shaped mouth / wide mouth appearance | HP:0000194 Open mouth / HP:0000154 Abnormality of the mouth | Bernardi 2009 cites “carped-shaped mouth” in prior cases; exact HPO match may vary, so broad mouth abnormality term may be safest (pqac-00000001) | Congenital | Craniofacial |
| Short neck | HP:0000470 Short neck | Reported among recurrent craniofacial/neck features in Bernardi 2009 (pqac-00000001) | Congenital | Craniofacial |
| Wormian bones | HP:0002645 Wormian bones | Bernardi 2009 reports wormian bones as a novel finding in the female proband (pqac-00000005) | Congenital | Craniofacial |
| Lacrimal sac fistula | HP:0007784 Lacrimal fistula | Bernardi 2009 describes lacrimal sac fistula as an additional, previously undescribed feature in their case (pqac-00000005) | Congenital | Craniofacial |
| Genital hypoplasia / ambiguous or abnormal genitalia | HP:0000078 Abnormality of the genital system / HP:0000047 Hypoplasia of the genitalia | Common associated finding across reports; Mensah 2023 notes “genitourinary features” and “abnormal female genitalia”; Bernardi 2009 highlights genital hypoplasia in the proband (pqac-00000000, pqac-00000002, pqac-00000005) | Congenital | Genitourinary |
| Small clitoris | HP:0000055 Hypoplasia of the clitoris | Bernardi 2009 female proband had “small clitoris” (pqac-00000003) | Congenital | Genitourinary |
| Hypoplastic labia / absent labia majora | HP:0010460 Hypoplasia of the labia majora / HP:0000050 Hypoplasia of the labia minora | Bernardi 2009 describes “absence of labia majora” and “hypoplasia of labia minora” (pqac-00000003) | Congenital | Genitourinary |
| Cryptorchidism in male cases | HP:0000028 Cryptorchidism | Bernardi 2009 review lists cryptorchidism among frequent genital anomalies in previously reported male patients (pqac-00000001) | Congenital | Genitourinary |
| Small penis | HP:0000054 Micropenis | Bernardi 2009 review cites “small penis/clitoris” among frequent genital anomalies (pqac-00000001) | Congenital | Genitourinary |
| Ectopic kidney | HP:0000086 Ectopic kidney | Bernardi 2009 reports ectopic kidney as an additional feature in the new case (pqac-00000005) | Congenital | Genitourinary |
| Anteriorly placed anus | HP:0001545 Abnormality of the anus / HP:0012832 Anteriorly placed anus | Bernardi 2009 reports an anteriorly placed anus in the female proband (pqac-00000003, pqac-00000005) | Congenital | Genitourinary |
| Motor developmental delay | HP:0001270 Motor delay | Bernardi 2009 summary of prior cases notes motor delay as a common non-skeletal feature; Mensah 2023 also mentions neurological features broadly (pqac-00000000, pqac-00000001) | Infancy / early childhood | Neurodevelopment |
| Speech delay | HP:0000750 Delayed speech and language development | Bernardi 2009 summary identifies speech delay as a common non-skeletal feature (pqac-00000001) | Early childhood | Neurodevelopment |


*Table: This table summarizes reported clinical features of brachyphalangy-polydactyly-tibial aplasia/hypoplasia syndrome and maps them to suggested HPO terms. It integrates the modern HMGB1-defined cohort from Mensah 2023 with earlier clinical delineation from Bernardi 2009 to support phenotype curation.*