Distal arthrogryposis type 1
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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: 1146
Definition
Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
100% of people have these symptoms.
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| Chorioretinal hyperpigmentation |
| Distal arthrogryposis |
80%-99% of people have these symptoms.
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| Overlapping fingers |
| Progressive ptosis |
| Slow progression |
| Adducted thumb |
| Contractures involving the joints of the feet |
30%-79% of people have these symptoms.
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| Abnormal bone ossification |
| Sparse eyebrow |
| Joint stiffness |
| Abnormality of the odontoid process |
| Camptodactyly of finger |
| Talipes |
| Ulnar deviation of finger |
5%-29% of people have these symptoms.
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| Pulmonary capillary hemangiomatosis |
| Abnormality of the hip bone |
| Rocker bottom foot |
| Narrow mouth |
1%-4% of people have these symptoms.
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| Talipes equinovarus |
| Microphthalmia |
| Limb-girdle muscle weakness |
| Joint contracture of the hand |
| Sensorineural hearing impairment |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Spartanburg, SC, 29304, United States Phone: +1-805-552-6274 Toll Free: 1-805-55-AMCSI (1-805-552-6274) Email: bod@amcsupport.org Url: https://amcsupport.org
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