X-linked skeletal dysplasia-intellectual disability syndrome

Orpha code: 1436OMIM code: 309620

Definicja

A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Christian syndrome
Zespół Christiana
Kod ORPHA
1436
Kod OMIM
309620
Kod ICD10
Q87.5
Kod ICD11
-

No additional description.

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