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2,272 Possible Causes for Cleft Palate, Mental Retardation

  • Patau Syndrome

    […] lip, and cleft palate.[] Survivors suffer from severe mental retardation and health problems all their lives.[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Velocardiofacial Syndrome

    Program Nr: 85 for the 2006 ASHG Annual Meeting The TBX1 gene in the 22q11.2 deletion and duplication syndromes: a susceptibility factor for mental retardation. D.[] PARTICIPANTS: Eight children with VCFS and five children with nonsyndromic cleft palate or VPD.[] retardation.[]

  • Pallister W Syndrome

    Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[] The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[] Case Report 72: Mental retardation, unusual facial appearance, abnormal hair Synd Ident 1981 7 : 6–7 3. Schaefer GB , Jochar A , Muneer R , Sanger WG .[]

  • Mandibulofacial Dysostosis

    palate.[] Other abnormalities ( cleft palate, colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent.[] palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.[]

  • Smith-Magenis Syndrome

    Abstract Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct[] […] a good candidate gene for isolated cleft palate.[] Since then, mental retardation, particularly in terms of language development, became increasingly more obvious.[]

  • CHARGE Syndrome

    Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic[] Abstract Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.[] Individuals had a higher proportion of cleft palates (40%) in comparison to the general CHARGE population (15-20%).[]

  • Pierre Robin Syndrome

    Skeletal II jaw relation was observed in 32% of the children with isolated cleft palate.[] retardation, severe seizures, skeletal (limb) abnormalities, small head (microcephaly), small lower jaw (micrognathia) and undescended testicles (cryptorchidism).[] Keyword: Pierre Robin syndrome, Sleep apnea syndrome, Mental retardation pp.1079-1083 発行日 1995年10月15日 Published Date 1995/10/15 DOI Copyright 1995, Igaku-Shoin Ltd.[]

  • Dandy-Walker Syndrome

    Abstract A boy was born with Dandy-Walker syndrome associated with a giant occipital meningocele, cleft lip, and cleft palate.[] Abstract A young boy presented with mental retardation and seizures with extensive hairy naevi.[] Some of the patients have other malformations associated with this syndrome include, Occipital Encephalocel, facial angioma, midline cleft palate, cardiovascular malformations[]

  • Terminal 4q Deletion Syndrome

    We delineate intervals with recurrent phenotypic overlap, particularly for cleft palate, congenital heart defect, intellectual disability, and autism spectrum disorder.[] However, she also had ipsilateral ptosis of eye, mental retardation, bilateral thumb anomalies and poor motor functions.[] Other clinical features included atrial septal defect, patent ductus arteriosus, micrognathia, cleft palate, inner epicanthal folds and long philtrum.[]

  • Smith Lemli Opitz Syndrome

    palate.[] retardation that for years was relegated to the atlases of genetic esoterica, was recently found to be a relatively common inborn error of metabolism.[] It comprises a characteristic combination of facial features, malformations, and mental retardation.[]

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