Disease Information for Otopalatodigital syndrome

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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