osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
Findings
No curated finding names osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.
Definition from the Mondo Disease Ontology (MONDO:0019603), read 2026-09-29. CC BY 4.0.