Tel Hashomer camptodactyly syndrome

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Tel Hashomer camptodactyly syndrome
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

Rare diseases - Tel Hashomer camptodactyly syndrome

A-Z list of rare diseases
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Tel Hashomer camptodactyly syndrome

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