Tel Hashomer camptodactyly syndrome
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Other namesCamptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases.[1]
SymptomsCamptodactyly, facial dysmorphisms, and abnormalities throughout the body (both internal and external)
Usual onsetBirth
| Tel Hashomer camptodactyly syndrome | |
|---|---|
| Other names | Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases.[1] |
| Specialty | Medical genetics |
| Symptoms | Camptodactyly, facial dysmorphisms, and abnormalities throughout the body (both internal and external) |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Genetic mutation |
| Diagnostic method | Physical evaluation, Radiography |
| Differential diagnosis | Isolated/idiopathic variant of all of the symptoms |
| Prevention | none |
| Prognosis | Ok |
| Frequency | Very rare, 23 cases have been reported across the world |
Tel Hashomer camptodactyly syndrome is a rare genetic disorder which is characterized by camptodactyly,( a condition where one or more fingers or toes are permanently bent), facial dysmorphisms, and fingerprint, skeletal and muscular abnormalities.[2][3] This disorder is thought to be inherited in an autosomal recessive fashion.[4]
This disorder has symptoms that affect the feet, hands, muscles, fingerprints, skeleton, heart and back, these include: talipes equinovarus (clubfeet), thenar/hypothenar hypoplasia, abnormalities of the palmar crease and the fingerprints, hypertelorism, long philtrum, spina bifida, and mitral valve prolapse.[5][6][7]