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1,213 Possible Causes for Arachnodactyly

  • Marfan Syndrome

    […] birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows, arachnodactyly[] The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled[] The skeletal manifestation is often characterised by long limbs, arachnodactyly, and abnormal joint flexibility along with other signs.[]

  • Homocystinuria

    The girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly, joint hyperlaxity[] Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[] […] retardation 73 per cent), and skeletal abnormalities suggesting the Marfan syndrome (35 per cent), such as kyphoscoliosis, genu valgum, pectus carinatum, long extremities, arachnodactyly[]

  • Congenital Contractural Arachnodactyly

    Congenital contractural arachnodactyly is a rare autosomal dominant connective tissue disorder characterized by congenital flexion contractures, arachnodactyly, camptodactyly[] […] and toes (arachnodactyly).[] Abnormally long, slender fingers and toes (arachnodactyly) are another typical findings in such patients.[]

  • Goldberg-Shprintzen Syndrome

    Shprintzen RJ, Goldberg RB (1982) A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias.[] "A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias".[] The main skeletal findings in SGS are arachnodactyly, flat feet, pectus deformity, scoliosis and hypermobile joints [ 1 ].[]

  • Ectopia Lentis

    , arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity.[] […] syndrome in which the hereditary or familial features were marked, and because of the peculiar long, thin and tapered, clawlike finger-ends he suggested the present name arachnodactyly[] ., 1995: J Clin Invest 95:2373-2378], familial arachnodactyly, Shprintzen-Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997:[]

  • Arthrogryposis Syndrome

    This site is intended for healthcare professionals General Practice Notebook Beal's Syndrome is also known as congenital contractural arachnodactyly.[] […] for FSS reduced but not eliminated Differential Diagnosis Sheldon-Hall syndrome Distal arthrogryposis type 1 Trismus-pseudocamptodactyly syndrome Congenital contractual arachnodactyly[] Summary Distal arthrogryposis type 9 ( DA9 – also known as congenital contractural arachnodactyly or Beals / Beals-Hecht syndrome ) is caused by heterozygous mutation in the[]

  • Pulmonary Emphysema

    A premature infant with arachnodactyly and congenital cyanotic heart disease had severe pulmonary emphysema, a little-known manifestation of Marfan syndrome.[]

  • Blepharophimosis

    While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome[] Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures.[] We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips,[]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    […] arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set ears arachnodactyly[] Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism[] Contractural arachnodactyly (Beals syndrome; OMIM 121050) This is an autosomal dominant disorder.[]

  • Tel Hashomer Camptodactyly Syndrome

    Congenital contractural arachnodactyly shares skeletal features with Marfan syndrome (MFS) such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis.[] Cerebro-facio-articular syndrome • Cerebro-hepato-renal syndrome • Cerebro-oculo-facio-skeletal syndrome • Chromosomal trisomy syndromes (involving chromosomes 8,13,18, and 21) • Contractural arachnodactyly[] […] terminal transverse limb defects) (Aplasia cutis congenita, congenital heart defect, and frontonasal cysts, included) 6 100600 Acanthosis nigricans 7 100700 Achard syndrome (Arachnodactyly-micrognathia[]

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