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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.
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.
Short middle phalanx of finger
MedGen UID:
337690
Concept ID:
C1846950
Finding
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Short 5th metacarpal
MedGen UID:
348858
Concept ID:
C1861388
Finding
Short fifth metacarpal bone.
Broad distal hallux
MedGen UID:
350166
Concept ID:
C1863403
Finding
Type A brachydactyly
MedGen UID:
869982
Concept ID:
C4024413
Anatomical Abnormality
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).
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).
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

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

Prognosis

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

Clinical prediction guides

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

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