Disease Information for Orodigitofacial syndrome

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Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Hydrocephalus
Orodigitofacial syndrome
Disease Mechanism & Classification
Class
CLASS/Facial area manifestation/disorder (ex)
CLASS/Jaw/dental/oral/salivary (category)
CLASS/Systemic/no comment (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
digito orofacial syndrome I, dysplasia linguofacialis, Gorlin Psaume Syndrome, Gorlin syndrome 1, OFD I Orofacial digital syn, OFD I Orofacial digital syndrome I, OFD SYNDROME I, OFD syndrome type I, OFD1, Oral facial digital syndrome, Oral facial digital syndrome (disorder), oral facial digital syndrome I, ORAL FACIAL DIGITAL SYNDROME TYPE I, oro facial digital syndrome, orodigitofacial dysostosis, orodigitofacial syndrome, Orofacial digital syndrome, Orofacial digital syndrome I, orofaciodigital (OFD) syndrome I, orofaciodigital syndrome I, Papillon Leage and Psaume Syndrome, Papillon Léage and Psaume syndrome, PAPILLON LEAGE PSAUME SYNDROME, Papillon Leage syndrome, PAPILLON LEAGUE PSAUME SYNDROME, Syndrome Gorlin Psaume, syndrome oro facial digital, Synonym/Oral facial digital syndrome, Synonym/Orofacial-digital syndrome, Synonym/Papillon-Leage syndrome, Synonym/Psaume syndrome
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.

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External Links Related to Orodigitofacial syndrome
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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