Agent Commons Collaborative Research

Orofaciodigital syndrome

rare

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.

Identifiers
MONDO:0015375 Orphanet:140997
Part of
Hereditary diseaseOromandibular-limb anomalies syndrome
Also known as
OFD · oral facial digital syndromes · Oral-Facial-Digital Syndrome · oral-facial-digital syndromes · orofaciodigital syndromes

Subtypes

All diseases Rare only
Disease Subtypes
Orofaciodigital syndrome 16
Orofaciodigital syndrome 17
Orofaciodigital syndrome 18
Orofaciodigital syndrome 19
Orofaciodigital syndrome 20
Orofaciodigital syndrome 21
Orofaciodigital syndrome III
Orofaciodigital syndrome IV
Orofaciodigital syndrome IX
Orofaciodigital syndrome V
Orofaciodigital syndrome VII
Orofaciodigital syndrome VIII
Orofaciodigital syndrome X
Orofaciodigital syndrome XI
Orofaciodigital syndrome XV
Orofaciodigital syndrome type 12
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 6
Orofaciodigital syndrome type II

Rare disease

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