Proportionate shortening of all digits

MedGen UID:: 350606
•Concept ID:: C1862157
•: Congenital Abnormality; Finding

HPO:	HP:0006165

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Proportionate shortening of all digits

Abnormality of limbs
- Aplasia/hypoplasia of the extremities
  - Aplasia/hypoplasia involving bones of the extremities
    - Aplasia/hypoplasia involving bones of the upper limbs
      - Aplasia/hypoplasia involving bones of the hand
        Aplasia/Hypoplasia of fingers
        Proportionate shortening of all digits

Conditions with this feature

Brachydactyly type A1

MedGen UID:: 354673
•Concept ID:: C1862151
•: Disease or Syndrome

In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the brachydactyly A1 type (BDA1), the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22.

See: Condition Record

Brachydactyly type A1

Recent clinical studies

Diagnosis

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.

Thompson W, Carey PZ, Donald T, Nelson B, Bhoj EJ, Li D, Hakonarson H, Ramirez M, Elsea SH, Smith JL, Carey JC, Sobering AK
Mol Genet Genomic Med 2020 Aug;8(8):e1318. Epub 2020 Jun 8 doi: 10.1002/mgg3.1318. PMID: 32511891 Free PMC Article

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