Disease Information for Otopalatodigital syndrome

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Clinical Manifestations
Signs & Symptoms
Glossoptosis/Swallowing tongue
Bossing forehead,infants
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
Diagnostic Test Results
X-RAY
Xray/Frontal bossing, infant/Skull
Xray/Parietal bossing/Skull
Associated Diseases & Rule outs
Associated Disease & Complications
Deafness, congenital
Disease Mechanism & Classification
Class
CLASS/Systemic/no comment (category)
CLASS/Ears/accessory (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq28
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Congenital/developmental (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Otopalatodigital syndrome, Synonym/Taybe syndrome
Definition

Otopalatodigital Syndrome Type I and II; Cranioorodigital Syndrome; FPO; Faciopalatoosseous Syndrome; OPD Syndrome; Subdivisions: OPD Syndrome, Type I; OPD Syndrome, Type II; Otopalatodigital syndrome type I and II are rare X-linked genetic disorders in which complete expression of the disease occurs only in males; Females may be mildly affected with some of the symptoms; OPD type I is the milder form of the disease and is characterized by cleft palate, hearing loss and skeletal abnormalities in the skull and limbs; OPD type II includes these abnormalities as well as growth deficiency and abnormalities of the brain and is frequently not compatible with life; [NORD]----------------------------------.A syndrome of distinctive facies with hypertelorism, prominent supraorbital ridges, and a broad nasal root (which give the patient a pugilistic appearance); conductive hearing loss (believed to be the cause of slow speech development); retarded bone development with short stature; abnormal fingers and toes; cleft palate; and generalized bone dysplasia. Facial features are more variable and mild in females than those in males and consist mostly of overhanging brow, hypertelorism, depressed nasal bridge, flat facies, and depressed bridge of the nose; Most male patients have mild mental retardation; [Jablonsky: Online Congenital Multiple Anomaly/Mental Retardation Syndromes, 1999]

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External Links Related to Otopalatodigital syndrome
Google
Wikipedia
Merck
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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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