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Brachydactyly type A1D(BDA1D)

MedGen UID:: 903193
•Concept ID:: C4225183
•: Disease or Syndrome

Synonym:	Brachydactyly, type a1, d

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

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Abnormality of limbs
Abnormality of the nervous system
- Delayed speech and language development
- Poor motor coordination

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 A1D

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer 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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