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504 Possible Causes for Cleft Palate, Imperforate Anus

  • Fraser Syndrome

    […] or without cleft palate were observed less frequently than previously reported.[ncbi.nlm.nih.gov] The frequency of additional anomalies in our series was also higher than previously reported (for example, imperforate anus or anal stenosis were found in 34/117 (29%) compared[ncbi.nlm.nih.gov] Other features might include cleft palate and lip and prominent philtrum that resembles a surgically repaired cleft lip (pseudocleft).[accessanesthesiology.mhmedical.com]

  • Pallister W Syndrome

    The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[latunisiemedicale.com] […] that is missing or blocked (imperforate anus), and kidney abnormalities.[thinkgenetic.com] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org]

  • Pallister-Hall Syndrome

    palate and other irregularities of the palate, cleft larynx or epiglottis, cysts on the gums, and ears that are small, low-set, and abnormally rotated toward the back of[checkorphan.org] Awareness of this new association should prompt the exclusion of Hirschprung's disease before repair of imperforate anus in infants with Pallister-Hall syndrome.[ncbi.nlm.nih.gov] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Congenital Ankyloblepharon

    […] to the cleft palate.[jclpca.org] Other associations may include hydrocephalus, meningocele, an imperforate anus, bilateral syndactyly, infantile glaucoma and cardiac problems such as patent ductus arteriosus[dailyrounds.org] anus. ( 8434631 ) Aughton D.J....Hufnagle K.G. 1993 4 Ankyloblepharon filiforme adnatum and imperforate anus: a new family with apparently autosomal dominant inheritance.[malacards.org]

  • CHARGE Syndrome

    Abstract Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.[ncbi.nlm.nih.gov] Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular[ncbi.nlm.nih.gov] Lip /- Cleft Palate Cleft lip with or without cleft palate, cleft palate, submucous cleft palate Image of Repaired Cleft Lip 20% TE Fistula Esophageal atresia, Trancheo-esophageal[chargesyndrome.org]

  • Pentalogy of Cantrell

    Three of these patients had cleft lip with or without palate.[ncbi.nlm.nih.gov] Abstract Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus[ncbi.nlm.nih.gov] Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies

    We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus[ncbi.nlm.nih.gov] She had multiple congenital anomalies of omphalocele, exstrophy of bladder, duodenal web, and imperforate anus.[ncbi.nlm.nih.gov] Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular[ncbi.nlm.nih.gov]

  • Mandibulofacial Dysostosis

    palate.[ncbi.nlm.nih.gov] Anus-Hypoplastic Thumbs Syndrome Deafness-Nephritis Syndrome Deafness-Onycho-Osteodystrophy-Mental Retardation Syndrome Debré-Sémélaigne Syndrome Defective Abdominal Wall[neo-genetics.com] palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.[ncbi.nlm.nih.gov]

  • Malpuech Syndrome

    , cleft palate, and urogenital anomalies.[ncbi.nlm.nih.gov] […] midline defects Nicolaides OEIS complex OMIM omphalocele Omphalocele containing Omphalocele-exstrophy-imperforate Anus-spinal Defects OPD2 palate partial trisomy 3q paternal[books.google.com] […] of the tongue to pharynx), and cleft palate –Incidence 1/2,000–1/30,000 –Mortality 2.2–26% * Syndrome-associated cleft lip with or without cleft palate –Accounts for 30%[checkorphan.org]

  • Oculo-Palato-Cerebral Syndrome

    Microcephaly, decreased muscle tone, in- complete Moro reflex, and a midline cleft palate were noted.[myslide.es] anus * Ocular convergence spasm * Ocular Histoplasmosis * Ocular melanoma * Ocular motility disorders * Ocular toxoplasmosis Oculo * Oculo-auriculo-vertebral spectrum * Oculo[en.academic.ru] Ocular coloboma-imperforate anus[?] Ocular convergence spasm[?] Ocular Histoplasmosis[?] Ocular melanoma[?] Ocular motility disorders[?] Ocular toxoplasmosis[?][encyclopedia.kids.net.au]

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