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814 Possible Causes for Severe Syndactyly

  • Apert Syndrome

    Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of[ncbi.nlm.nih.gov] Apert syndrome is a rare autosomal dominant disorder characterized by severe syndactyly of the feet and hands, craniofacial abnormalities, and craniosynostosis.[ncbi.nlm.nih.gov] Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet.[ncbi.nlm.nih.gov]

  • Syndactyly

    She had a half cousin who had an unusual new type or severe type I syndactyly.[ncbi.nlm.nih.gov] There appeared to be an association between the severity of syndactyly and the severity of dental and urologic findings, but not ophthalmologic or neurologic findings such[ncbi.nlm.nih.gov] Presentation Once the child presents to the clinician, it is important to determine the type and severity of the syndactyly.[boneandspine.com]

  • Metabolic Syndrome

    The expression and severity of the various clinical BBS features show inter- and intrafamilial variability.[ncbi.nlm.nih.gov] […] formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly[ncbi.nlm.nih.gov]

  • Cenani Syndactylism

    It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and[uniprot.org] Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.[pubfacts.com] Here we describe a consanguineous Pakistani kindred with a severe form of CLSS characterized by complete syndactyly and disorganization of fingers, oligo-syndactyly of toes[pubfacts.com]

  • Basal Cell Carcinoma

    Congenital malformation: cleft lip and/or palate, polydactyly, cataract, coloboma, microphthalmia Cleft lip or palate, frontal bossing, moderate or severe hypotelorism Cleft[cancer.gov] […] lip and/or palate, polydactyly Cleft lip or palate Sprengel deformity, marked pectus deformity, marked syndactyly Sprengel deformity, marked pectus deformity, marked syndactyly[cancer.gov]

  • Schizoaffective Disorder

    Several of these disorders are known to be caused by autosomal dominant mutations.[doi.org] […] age has been associated with major congenital malformation syndromes and isolated birth defects, including Apert’s syndrome (8), craniosynostosis (22), situs inversus (6), syndactyly[doi.org]

  • Polysyndactyly

    ), Syndactyly of several fingers or toes.[medical-dictionary.thefreedictionary.com] Syndactyly of several fingers or toes.[encyclo.co.uk] Polysyndactyly pol·y·syn·dac·ty·ly ( pol'ē-sin-dak'ti-lē ) Syndactyly of several fingers or toes. polysyndactyly hereditary association of polydactyly and syndactyly.[medical-dictionary.thefreedictionary.com]

  • Bipolar Disorder

    […] prolongation of the QT interval on electrocardiogram, syndactyly, cognitive abnormalities and autism spectrum symptoms. 58 In summary, we have generated a list of genes and[nature.com] Treatment of mania with verapamil initially showed promise, but its efficacy remains ambiguous. 56, 57 Mutations in CACNA1C have been shown to cause Timothy's syndrome with severe[nature.com] Treatment of mania with verapamil initially showed promise, but its efficacy remains ambiguous. 56 , 57 Mutations in CACNA1C have been shown to cause Timothy's syndrome with severe[nature.com]

  • Facial Nerve Paralysis of the Newborn

    Common associated findings in this syndrome include rib defects, hypoplasia of the upper extremities, and syndactyly.[aafp.org] Occasionally, more severe limb reduction deformities, hemivertebrae, renal anomalies, and dextrocardia may be present.[aafp.org]

  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Natl Acad. Sci. USA 102, 8089–8096 (2005). 147. Etheridge, S. P. et al.[doi.org] Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am. J. Med. Genet. A. . 146. Splawski, I. et al.[doi.org]

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