Orofaciodigital Syndromes

Orofaciodigitala syndrom

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.

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 Dysplasia Linguofacialis Orofaciodigital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral-Facial-Digital Syndrome Oro-Facio-Digital Syndrome Papillon-Leage and Psaume Syndrome Papillon Leage and Psaume Syndrome Oral-Facial-Digital Syndrome, Type I Oral Facial Digital Syndrome, Type I Orofaciodigital Syndrome I Orofaciodigital Syndrome Is Gorlin-Psaume Syndrome Gorlin Psaume Syndrome Syndrome, Gorlin-Psaume Mohr Syndrome Syndrome, Mohr Orofaciodigital Syndrome II Orofaciodigital Syndrome IIs Oral-Facial-Digital Syndrome, Type II Oral Facial Digital Syndrome, Type II