A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/16096999 ]
Synonyms: oculopalatoskeletal syndrome craniofacial-ulnar-renal syndrome
Term information
Term relations
- autosomal recessive disease
- syndrome
- has material basis in some autosomal recessive inheritance
- has symptom some ptosis