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Brachydactyly type A1C(BDA1C)

MedGen UID:
767360
Concept ID:
C3554446
Disease or Syndrome
Synonym: Brachydactyly, type a1, c
 
Gene (location): GDF5 (20q11.22)
 
Monarch Initiative: MONDO:0014032
OMIM®: 615072

Definition

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene. [from MONDO]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
Bilateral talipes equinovarus
MedGen UID:
332956
Concept ID:
C1837835
Congenital Abnormality
Bilateral clubfoot deformity.
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 the 2nd finger
MedGen UID:
867077
Concept ID:
C4021435
Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
Short middle phalanx of the 3rd finger
MedGen UID:
867116
Concept ID:
C4021474
Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.
Short middle phalanx of the 4th finger
MedGen UID:
867139
Concept ID:
C4021497
Anatomical Abnormality
Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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