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1,167 Possible Causes for Craniosynostosis, Polydactyly

  • Pallister-Hall Syndrome

    Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[ojrd.biomedcentral.com] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects.[ncbi.nlm.nih.gov]

  • Acrocephalopolysyndactyly

    […] sagittal craniosynostosis lambdoid sutures craniosynostosis pilonidal dimple absent coccyx spina bifida occulta scoliosis coxa v alga decreased hip-joint mobility flared[humpath.com] Found on acrocephalopolysyndactyly Congenital malformation in which oxycephaly, brachysyndactyly of hand, and preaxial polydactyly of feet are associated with mental retardation[encyclo.co.uk] […] acrocephalopolysyndactyly (s) ( noun ), acrocephalopolysyndactylies (pl) Any of four heritable malformation syndromes recognizable at birth and characterized by premature craniosynostosis[wordinfo.info]

  • Rubinstein-Taybi Syndrome

    , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[ctgt.net] Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot.[ncbi.nlm.nih.gov] An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Abstract Rubinstein-Taybi Syndrome (RSTS) is a rare multiple congenital anomaly syndrome[jpnim.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Homepage Rare diseases Search Search for a rare disease Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Disease definition Craniosynostosis, Dandy-Walker[orpha.net] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de] Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.[unboundmedicine.com]

  • Apert Syndrome

    Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture.[ncbi.nlm.nih.gov] We report a patient with a rare form of Apert syndrome with polydactyly.[ncbi.nlm.nih.gov] We eliminate postulated roles for dura mater or skull base changes in craniosynostosis.[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis[ncbi.nlm.nih.gov] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[ncbi.nlm.nih.gov] Patients with craniofrontanasal dysplasia will need surgery to treat their craniosynostosis, if this condition is present.[hopkinsallchildrens.org]

  • Polydactyly

    Agenesis130650DBeckwith-Wiedemann Syndrome CDKN1C 210350RBiemond Syndrome II * UBitoun (1994)-Glaucoma-Thumb Anomalies-Joint Dislocations * RBlair (2000) Autosomal Recessive Craniosynostosis[ncbi.nlm.nih.gov] Complications Complications related to polydactyly is associated with the surgical intervention for managing polydactyly.[symptoma.com] […] recessive families have been described Rare - only 10 families reported Complete syndactyly Includes digits 2-5 and may include thumb also Usually seen with Apert syndrome (craniosynostosis[en.wikibooks.org]

  • Saethre-Chotzen Syndrome

    Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented.[ncbi.nlm.nih.gov] […] syndrome 5 type III : Saethre-Chotzen syndrome 3 type IV : Goodman syndrome 6 type V : Pfeiffer syndrome others Robinow-Sorauf syndrome When there are calvarial anomalies with polydactyly[radiopaedia.org]

  • Craniofrontonasal Dysplasia

    Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies.[ncbi.nlm.nih.gov] High anterior hairline Joint hypermobility Low posterior hairline Microcephaly Muscular hypotonia Oral cleft Plagiocephaly Preaxial foot polydactyly Sandal gap Scoliosis[familydiagnosis.com] Frontonasal dysplasia, a nonspecific defect in a developmental field complex, and craniosynostosis usually occur as isolated sporadic events.[ncbi.nlm.nih.gov]

  • Gorlin-Chaudhry-Moss Syndrome

    [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[ncbi.nlm.nih.gov] […] deletion though 9q22-q32 deletions have been reported to have mental retardation, seizures, hypotelorism, sclerocornea, duodenal atresia, malrotation, hydronephrosis, preaxial polydactyly[nature.com] De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.[ghr.nlm.nih.gov]

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