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1,534 Possible Causes for Cleft Palate, Polydactyly

  • Patau Syndrome

    […] lip, and cleft palate.[] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Meckel-Gruber Syndrome

    Abstract The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS[] The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly.[] Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography[]

  • Mohr Syndrome

    She was unable to adjust for natural feeding due to her lobulated tongue and cleft palate.[] Abstract Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet,[] Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients.[]

  • Smith Lemli Opitz Syndrome

    palate.[] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[] The malformations present were facial dysmorphisms, cleft palate, congenital heart disease, genitourinary abnormalities, and syndactyly of the toes.[]

  • Partial Trisomy 13 in Patau Syndrome

    Surgery is conducted for treating physical defects such as cleft lip and cleft palate. Occupational and speech therapy helps in full developmental potential.[] (60%), microcephaly, microphthalmia, cleft lip/palate, postaxial polydactyly (60%), omphalocele, heart defects, and renal anomalies.[] Surgery may be necessary to repair heart defects or cleft lip and cleft palate.[]

  • Branchio-Oculo-Facial Syndrome

    palate.[] This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[] She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene.[]

  • Simpson Dysmorphia Syndrome

    In addition, the propositus also had pulmonic stenosis and a cleft palate.[] […] with Cleft Palate.[] […] nasal bridge, an upturned nose tip, and macroglossia, resulting in a physiognomy fancifully likened to that of a bulldog, and broad short hands and feet, occasionally with polydactyly[]

  • Frontonasal Dysplasia

    The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate[] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[] Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended.[]

  • Pallister W Syndrome

    The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[] […] or postaxial polydactyly (Biesecker, 2010).[] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[]

  • Acrocallosal Syndrome

    The older sister in addition had cleft palate, while only the younger had a supratentorial cyst between cerebrum and cerebellum and epileptic fits.[] Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes.[] palate.[]

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