Conditions / Syndrome
terminal osseous dysplasia
info · Syndrome
A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
Signs and symptoms
- Brachydactyly
- Clinodactyly
- Thick vermilion border
- Hypertelorism
- Accessory oral frenulum
- Telecanthus
- Epicanthus
- Upslanted palpebral fissure
- Abnormal bone structure
- Camptodactyly of finger
Also known as: ODPD; ODPF syndrome; TOD; TODPD; digital osseous dysplasia with facial pigmentary defects and multiple frenula