Acropectorovertebral dysplasia F form
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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: 957
Definition
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
Epidemiology
It has been described in less than 30 patients from three unrelated families.
Clinical description
Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.
Etiology
The causative gene has been mapped to chromosome region 2q36.
Genetic counseling
This syndrome is transmitted as an autosomal dominant trait with full penetrance.
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.
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30%-79% of people have these symptoms.
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| Slurred speech |
| Hydroxyprolinemia |
| Intellectual disability, mild |
| Spina bifida |
5%-29% of people have these symptoms.
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| Redundant neck skin |
| Sparse eyebrow |
| Increased number of skin folds |
| Camptodactyly of finger |
| Cleft palate |
| High, narrow palate |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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