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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 93382
Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Abnormal circulating glycine concentration|
|Hypoplasia of the ulna|
|Abnormality of the vertebral column|
|Acute episodes of neuropathic symptoms|
|Abnormal vocal cord morphology|
|Narrow nasal bridge|
|Hypoplasia of the odontoid process|
|Amyloid deposition in the vitreous humor|
|Type A brachydactyly|
|Aplasia/Hypoplasia of the middle phalanges of the hand|
|Autosomal dominant inheritance|
|Decreased finger mobility|
|Dysplastic distal radial epiphyses|
|Hypoplasia of the radius|
|Radial deviation of finger|
|Short phalanx of finger|
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