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Brachydactyly Type A1 phenotype curation notes

Date: 2026-04-19 Scope: phenotype-only curation for kb/disorders/Brachydactyly_Type_A1.yaml

Accepted phenotype assertions

  • Type A1 brachydactyly Evidence used: PMID:11455389, PMID:21537345, PMID:32209048 Rationale: multiple abstracts explicitly describe shortening/absence of the middle phalanges, and one multigeneration family reports 100% penetrance for phalange phenotype with variable expressivity.

  • Short middle phalanx of finger Evidence used: PMID:34315464, PMID:18629882 Rationale: both abstracts explicitly state uniform shortening of the middle phalanges in all digits.

  • Short middle phalanx of toe Evidence used: PMID:30651074, PMID:40606564 Rationale: both abstracts explicitly include toe involvement (middle bones of fingers and toes; shortening of fingers and/or toes).

  • Short stature Evidence used: PMID:34315464 Rationale: direct abstract support in a molecularly confirmed BDA1 family, but stated as variable rather than obligatory.

Claims intentionally not added

  • Symphalangism as a standalone phenotype Reason: PMID:40606564 mentions with or without symphalangism, but the abstract does not specify the joint pattern or body site. More detailed fusion findings in recent reports appear in figure captions/full text and would not survive abstract-only reference validation.

  • Specific metacarpal or metatarsal shortening, radial deviation, and digit-by-digit absent phalanges Reason: useful supporting detail exists in figures/full text for PMID:32209048 and PMID:35669189, but not in the cached abstract text.

  • Generalized prenatal limb shortening as a disease-level phenotype Reason: PMID:40606564 reports fetal limb shortening, but this currently looks like an isolated prenatal observation rather than a sufficiently established disorder-level phenotype for BDA1.