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

A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.

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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