Conditions / Musculoskeletal
osteopathia striata with cranial sclerosis
info · Musculoskeletal
An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in muta
An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11.
Signs and symptoms
- Mild intellectual disability
- Epicanthus
- Fibular hypoplasia
- Short stature
- Seizure
- Hypotonia
- Gastroesophageal reflux
- Generalized hypotonia
- Hypertelorism
- Large fontanelles
Also known as: Robinow-Unger syndrome; hyperostosis generalisata with striations