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Disease Information for Orodigitofacial syndrome

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

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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