Brachydactyly type A1B(BDA1B)

MedGen UID:: 339652
•Concept ID:: C1846949
•: Disease or Syndrome

Synonym:	Brachydactyly type A1, B

Monarch Initiative:	MONDO:0011757
OMIM®:	607004

Clinical features

From HPO

Radial deviation of finger

MedGen UID:: 322852
•Concept ID:: C1836189
•: Finding

Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.

See: Feature record | Search on this feature

Short distal phalanx of finger

MedGen UID:: 326590
•Concept ID:: C1839829
•: Finding

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.

See: Feature record | Search on this feature

Short middle phalanx of finger

MedGen UID:: 337690
•Concept ID:: C1846950
•: Finding

Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.

See: Feature record | Search on this feature

Short 5th metacarpal

MedGen UID:: 348858
•Concept ID:: C1861388
•: Finding

Short fifth metacarpal bone.

See: Feature record | Search on this feature

Broad distal hallux

MedGen UID:: 350166
•Concept ID:: C1863403
•: Finding

See: Feature record | Search on this feature

Type A brachydactyly

MedGen UID:: 869982
•Concept ID:: C4024413
•: Anatomical Abnormality

See: Feature record | Search on this feature

Clinodactyly

MedGen UID:: 1644094
•Concept ID:: C4551485
•: Congenital Abnormality

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

See: Feature record | Search on this feature

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

See: Feature record | Search on this feature

Cone-shaped epiphyses of the phalanges of the hand

MedGen UID:: 347156
•Concept ID:: C1859480
•: Finding

A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of limbs
Abnormality of the musculoskeletal system
- Cone-shaped epiphyses of the phalanges of the hand
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBrachydactyly type A1
- CROGVBrachydactyly type A1A
- CROGVBrachydactyly type A1B
- CROGVBrachydactyly type A1C
- CROGVBrachydactyly type A1D

Dysostosis with brachydactyly without extraskeletal manifestations
- Brachydactyly type A1
  - Brachydactyly type A1B

Recent clinical studies

Diagnosis

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

Myśliwiec M, Panasiuk B, Dębiec-Rychter M, Iwanowski PS, Łebkowska U, Nowakowska B, Marcinkowska A, Stankiewicz P, Midro AT
Am J Med Genet A 2015 Feb;167A(2):445-9. doi: 10.1002/ajmg.a.36874. PMID: 25756154

See all (1)