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732 Possible Causes for Ehlers Danlos Syndrome, Marfanoid Habitus

  • Marfan Syndrome

    Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.[ncbi.nlm.nih.gov] On physical examination he presented with marfanoid habitus. Pneumothorax was managed conservatively with resolution.[ncbi.nlm.nih.gov] The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of[ncbi.nlm.nih.gov]

  • Ehlers Danlos Syndrome

    habitus.[bestpractice.bmj.com] […] type, 2 Ehlers-Danlos syndrome, type 2 atypical Ehlers-Danlos syndrome, type 3 Ehlers-Danlos syndrome, type 4 Ehlers-Danlos syndrome, type 4 variant Ehlers-Danlos syndrome[web.archive.org] Homocystinuria also results in a Marfanoid habitus but presents with inferior and medial displacement of the lens ( downward and inward )![amboss.com]

  • Brittle Cornea Syndrome

    Because of similarities between the BCS and the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VI), both disorders tend to have been confounded.[ncbi.nlm.nih.gov] MEN2B, however, is distinguished by multiple mucosal neuromas and distinctive marfanoid body habitus.[dermatologyadvisor.com] Phenotypically, the disorder bears a certain resemblance to fragilitas oculi and the type VI (ocular) form of the Ehlers-Danlos syndrome, two conditions which are, themselves[ncbi.nlm.nih.gov]

  • Hypermobility Syndrome

    INTRODUCTION: An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected.[ncbi.nlm.nih.gov] Initially it included things like mild variants of the skin changes described above, and the often-found body shape called the marfanoid habitus (see below).[web.archive.org] The Marfanoid habitus is one of the minor sign of the Brighton Criteria for the diagnosis of JHS and it can be seen both in JHS and in Marfan syndrome.[reumatologia-dr-bravo.cl]

  • Goldberg-Shprintzen Syndrome

    Craniosynostosis syndrome associated with marfanoid habitus and intellectual difficulty.[genetics4medics.com] […] type 1 AD 166 544 COL3A1 Ehlers-Danlos syndrome AD 499 625 COL5A1 Ehlers-Danlos syndrome AD 84 151 COL5A2 Ehlers-Danlos syndrome AD 21 34 COL11A1 Marshall syndrome, Fibrochondrogenesis[blueprintgenetics.com] habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.[orpha.net]

  • Ectopia Lentis

    Danlos syndrome, homocystinuria, and sulfite oxidase deficiency.[ncbi.nlm.nih.gov] habitus.[ncbi.nlm.nih.gov] PURPOSE: To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus.[ncbi.nlm.nih.gov]

  • Keratoglobus

    (keratoglobus) 112 results [Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients].[unboundmedicine.com] Other systemic features in this type are the presence of hypermobile joints, skeletal abnormalities like scoliosis, pectus excavatum, a marfanoid habitus, and hearing loss[aimu.us] habitus Blue sclera, keratoconus, cornea plana (ii) Marfan syndrome 5, 7, 8, 59 Musculoskeletal defects: dolichostenomelia, arachnodactyly, prognathism, high-arched palate[ncbi.nlm.nih.gov]

  • Congenital Contractural Arachnodactyly

    Examples include Marfan syndrome, Ehlers-Danlos syndrome, Loeys–Dietz syndrome, congenital contractural arachnodactyly, and homocystinuria.[en.wikipedia.org] Abstract Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus,[ncbi.nlm.nih.gov] Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant . J Biol Chem 1988 ;263: 8561 –4. 20.[nejm.org]

  • Multiple Endocrine Neoplasia Type 2B

    Dural ectasia can be seen in anchylosing spondylitis, achondroplasia, Loeys-Dietz syndrome and in the vascular form of Ehlers-Danlos syndrome besides Marfan syndrome.[endocrine-abstracts.org] […] to search autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid[wikidata.org] habitus is reported.[ncbi.nlm.nih.gov]

  • Ehlers-Danlos Syndrome Type 4

    Ehlers-Danlos syndrome.[symptoma.com] Marfan patients generally have a body type called a Marfanoid body habitus.[forgottendiseases.org] habitus (i.e. tall, slim physique, span:height ratio 1.3, upper:lower segment ratio Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring Eye signs:[medical-dictionary.thefreedictionary.com]

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