Svensk definition
Två syndrom med mun-, ansikt- och fingermissbildningar. Typ I (Papillon-Leages och Psaumes syndrom) är X-bundet dominant nedärvt och förekommer endast hos kvinnor och XXY män. Typ II (Mohrs syndrom) är autosomalt recessivt nedärvt.
Orofaciodigital Syndromes
Orofaciodigitala syndrom
Engelsk definition
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Syndrome, Orofaciodigital — Syndromes, Orofaciodigital — Oral-Facial-Digital Syndrome — Dysplasia Linguofacialis — Oro-Facio-Digital Syndrome — Orodigitofacial Dysostosis — Orodigitofacial Syndrome — Orofaciodigital Syndrome — Mohr Syndrome — Syndrome, Mohr — Oral-Facial-Digital Syndrome, Type II — Oral Facial Digital Syndrome, Type II — Orofaciodigital Syndrome II — Orofaciodigital Syndrome IIs — Papillon-Leage and Psaume Syndrome — Papillon Leage and Psaume Syndrome — Gorlin-Psaume Syndrome — Gorlin Psaume Syndrome — Syndrome, Gorlin-Psaume — Orofaciodigital Syndrome I — Orofaciodigital Syndrome Is — Oral-Facial-Digital Syndrome, Type I — Oral Facial Digital Syndrome, Type I