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1,312 Possible Causes for Imperforate Anus, Low Anterior Hairline, Syndactyly between Adjacent Toes

  • Craniosynostosis Type 3

    Imperforate anus. Gastro-oesophageal reflux. Dental problems - delayed and unusual patterns of eruption; missing teeth.[patient.info] Characteristic features include coronal synostosis (usually unilateral) with restriction in growth of the anterior cranial base, a low set frontal hairline and facial asymmetry[cincinnatichildrens.org]

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis.[ncbi.nlm.nih.gov] The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus.[ncbi.nlm.nih.gov]

    Missing: Low Anterior Hairline
  • Fraser Syndrome

    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] […] conical ears, abnormal anterior hairline, and a high arched palate.[ojoonline.org] anus, bilateral renal agenesis, pulmonary hypoplasia, and hydrocephalus.[en.wikipedia.org]

    Missing: Syndactyly between Adjacent Toes
  • Pallister W Syndrome

    Anal stenosis without imperforate anus has also been reported.[jmg.bmj.com] The faces were characterized by a broad nasal bridge, bulbous nose, upward slanting palpebral fissures, microretrognathia, low anterior hairline, and large ears with an incompletely[findzebra.com] There was hypertelorism and a low hairline. The right iris had an inferonasal coloboma; the anterior segments were otherwise normal.[jamanetwork.com]

    Missing: Syndactyly between Adjacent Toes
  • Multiple Congenital Anomalies

    She had multiple congenital anomalies of omphalocele, exstrophy of bladder, duodenal web, and imperforate anus.[ncbi.nlm.nih.gov] Dysmorphic features included a tall forehead with low anterior hairline, hypertelorism, low-set ears, and a prominent nose and midface.[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]

    Missing: Syndactyly between Adjacent Toes
  • Gorlin-Chaudhry-Moss Syndrome

    A ... 416 A newborn with caudal duplication and duplex imperforate anus.[biomedsearch.com] anterior hairline ; Low posterior hairline ; Low-set ears ; Mandibular prognathia ; Microcephaly ; Microdontia ; Micrognathia ; Micropenis ; Microphthalmia ; Midface retrusion[mousephenotype.org] Uretropelvic junction obstruction, imperforate anus. Central nervous system occipital encephalocele.[vivavoceoralmedicineradiology.com]

    Missing: Syndactyly between Adjacent Toes
  • Dubowitz Syndrome

    anus, and spinal defects complex Knobloch syndrome Alopecia intellectual disability syndrome 2 Spinocerebellar ataxia 10 Imperforate oropharynx-costo vetebral anomalies L1[checkrare.com] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower[rarediseases.info.nih.gov] anterior hairline Low-set, posteriorly rotated ears Micrognathia Narrow face Postnatal growth retardation Protruding ear Ptosis Recurrent infections Respiratory insufficiency[dovemed.com]

    Missing: Syndactyly between Adjacent Toes
  • Ring Chromosome 7

    Our case had multicystic kidney and imperforate anus, which have not been reported previously. Prenatal diagnosis of ring chromosome 7 is very difficult.[researchoutput.ncku.edu.tw] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Malar flattening Zygomatic flattening 0000272 Microcephaly Abnormally small skull Decreased[rarediseases.info.nih.gov] It was continued to term and at birth, the female infant was microcephalic, had hypertelorism, a webbed neck, an imperforate anus and rocker bottom feet.[tp.amegroups.com]

    Missing: Syndactyly between Adjacent Toes
  • Congenital Malrotation of the Colon

    Imperforate Anus Imperforate Anus & Associated Anomalies: incidence is 1/5000 live births and is a result of abnormal development of urorectal system.[elearn.uta.edu] anterior hairline Exotropia Nephrolithiasis Large fontanelles Blue sclerae High myopia Scarring Microcornea Bruising susceptibility Retinal detachment Talipes Joint dislocation[mendelian.co] anus Intussusception Meckel Diverticulum Omphalocele Pyloric Stenosis[fpnotebook.com]

    Missing: Syndactyly between Adjacent Toes
  • Otoonychoperoneal Syndrome

    anus Ocular convergence spasm Ocular Histoplasmosis Ocular melanoma Ocular motility disorders Ocular toxoplasmosis Oculo Oculo cerebral dysplasia Oculo cerebro acral syndrome[wikidoc.org] anterior hairline Inguinal hernia Intrauterine growth retardation Neonatal hypotonia Febrile seizures Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis[mendelian.co] Ocular coloboma-imperforate anus[?] Ocular convergence spasm[?] Ocular Histoplasmosis[?] Ocular melanoma[?] Ocular motility disorders[?] Ocular toxoplasmosis[?][encyclopedia.kids.net.au]

    Missing: Syndactyly between Adjacent Toes

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