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Brachydactyly type A1D(BDA1D)

MedGen UID:
903193
•Concept ID:
C4225183
•
Disease or Syndrome
Synonym: Brachydactyly, type a1, d
 
Gene (location): BMPR1B (4q22.3)
 
Monarch Initiative: MONDO:0014798
OMIM®: 616849

Definition

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. [from MONDO]

Clinical features

From HPO
Short middle phalanx of the 5th finger
MedGen UID:
322335
•Concept ID:
C1834060
•
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
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Clinodactyly of the 5th finger
MedGen UID:
340456
•Concept ID:
C1850049
•
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
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Short proximal phalanx of thumb
MedGen UID:
340786
•Concept ID:
C1855091
•
Finding
Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
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Short proximal phalanx of finger
MedGen UID:
348659
•Concept ID:
C1860606
•
Congenital Abnormality
Congenital hypoplasia of one or more proximal phalanx of finger.
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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
MedGen UID:
396303
•Concept ID:
C1862144
•
Finding
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Short distal phalanx of the thumb
MedGen UID:
400023
•Concept ID:
C1862313
•
Finding
Hypoplastic (short) distal phalanx of the thumb.
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Short distal phalanx of the 2nd finger
MedGen UID:
867080
•Concept ID:
C4021438
•
Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.
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Abnormal foot morphology
MedGen UID:
1762829
•Concept ID:
C5399834
•
Anatomical Abnormality
An abnormality of the skeleton of foot.
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Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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Poor motor coordination
MedGen UID:
338471
•Concept ID:
C1848453
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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