Tel Hashomer camptodactyly syndrome
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| Tel Hashomer camptodactyly syndrome | |
|---|---|
| File:Autorecessive.svg | |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Camptodactyly, short stature, muscle weakness, joint contractures |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Physical therapy, orthopedic surgery |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Alternate names
Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
Definition
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
Epidemiology
Up to 2005, 20 cases had been reported.
Cause
The molecular basis of the syndrome has not yet been elucidated.
Inheritance
Inheritance is probably autosomal recessive.
Signs and symptoms
- Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth.
- Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed.
- The affected patients usually have normal mental development.
Diagnosis
Treatment
NIH genetic and rare disease info
Tel Hashomer camptodactyly syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Tel Hashomer camptodactyly syndrome
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Resources
| Additional resources | ||
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Tel Hashomer camptodactyly syndrome
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