Brachydactyly type A4
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 93394
Definition
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Abnormal temper tantrums |
| Short middle phalanx of the 2nd finger |
| Short middle phalanx of the 5th finger |
| Shortening of all middle phalanges of the toes |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Short stature |
| Symphalangism affecting the phalanges of the hand |
5%-29% of people have these symptoms.
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| Talipes equinovarus |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Underdeveloped nasal alae |
| Inertia |
| Aplasia of the middle phalanges of the toes |
| Autosomal dominant inheritance |
| Congenital talipes calcaneovalgus |
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