Terminal osseous dysplasia and pigmentary defects. TODPD
Incidence
Terminal osseous dysplasia is an X-linked dominant male-lethal disease. Terminal osseous dysplasia is caused by mutation in the FLNA gene. It is a very rare condition.
Clinical Characteristics
Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy. The syndrome is characterized by abnormal and delayed ossification of bones in the hands and feet, leading to brachydactyly, camptodactyly, and clinodactyly, severe limb deformities, and joint contractures. In addition, affected individuals had pigmentary skin lesions on the face and scalp, dysmorphic features including hypertelorism, and multiple frenula. When fully expressed, females have multiple anomalies including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. Mental status is usually normal.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.