Disease Information for Orocraniodigital (Juberg-Hayward) Syndrome

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Clinical Manifestations
Signs & Symptoms
Craniofacial Abnormalities/Congenital
Oral frenulum/tongue tie
Mental Deficiency Child
Absent thumbs deformity
Snoring
Diagnostic Test Results
X-RAY
Xray/Metacarpal Y-Shaped Anomalies
Associated Diseases & Rule outs
Associated Disease & Complications
Cleft lip/deformity
Dandy-Walker syndrome
Facial dysplasia
Genital anomalies/caused
Hypertelorism/Wide Spaced Eyes
Mental retardation
Microcephaly/oligophrenia
Syndactyly/Webbing
Metacarpal Anomalies
Disease Mechanism & Classification
Class
CLASS/Digit disorder (ex)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Orocraniodigital Syndrome; Cleft Lip/Palate with Abnormal Thumbs and Microcephaly; Cranio-Oro-Digital Syndrome; Digital-Oro-Cranio Syndrome; Juberg Hayward Syndrome; Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits); Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes; In some cases, malformations of certain skeletal bones may also be present; Mental retardation has occurred in the majority of cases; Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait-------------[NORD 2005]-------

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External Links Related to Orocraniodigital (Juberg-Hayward) Syndrome
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Wikipedia
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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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