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craniofacial dysplasia - osteopenia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence.
Mondo Term and Equivalent IDs
MONDO:0012634:  craniofacial dysplasia - osteopenia syndrome
MESH:C566988: 
Orphanet:314555: 
UMLS:C1970027: