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657 Possible Causes for Marfanoid Habitus

  • Homocystinuria

    habitus, osteoporosis, attention deficit and hyperactivity disorder.[] Gene CBS (AR) Diagnostic Test Plasma Total Homocysteine, Urine Organic Acids Neurological Psychosis/depression, behavioral disturbances, stroke, dystonia Non-Neurological Marfanoid[] This will cause the complications of thromboembolism etc only (not those marfanoid habitus etc stuff).[]

  • Multiple Endocrine Neoplasia Type 2B

    habitus is reported.[] The characteristic phenotype including mucosal neuromas, musculoskeletal abnormalities and a marfanoid habitus led us to suspect this diagnosis, which was confirmed by the[] MEN 2B is characterized by the combined occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and Marfanoid habitus.[]

  • Marfan Syndrome

    On physical examination he presented with marfanoid habitus. Pneumothorax was managed conservatively with resolution.[] 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[] habitus.[]

  • Ehlers Danlos Syndrome

    habitus.[] Marfanoid habitus This may be present in association with EDS (usually incomplete).[] 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:[]

  • Marfanoid Habitus with Situs Inversus

    Fryns Syndrome MARFAN LIPODYSTROPHY SYNDROME Marfan Syndrome Type 2 Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Habitus with Situs Inversus Marfanoid[] Abstract Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to defective left-right axis determination.[] […] to further confirm the marfanoid habitus / marfan syndrome[]

  • PDE4D Haploinsufficiency Syndrome

    habitus Growth Weight: decreased body mass index[] habitus syndrome 4 Cases 672 Pallister-Hall syndrome 100 Cases 140966 Palmoplantar keratoderma, Nagashima type 20 Cases 2202 Palmoplantar keratoderma- deafness syndrome 10[] habitus X-linked intellectual deficit, Cabezas type X-linked intellectual deficit, Golabi-Ito-Hall type X-linked intellectual deficit, Najm type X-linked intellectual deficit[]

  • Ehlers-Danlos Syndrome, Type 6

    Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia.[] Hyperelastic skin in a person with cEDS Translucent skin in Vascular EDS (VEDS) Atrophic scar found in cEDS, clEDS, Dermatosparaxis, and some other types "Marfanoid habitus[] A marfanoid habitus is often striking. Thoracic scoliosis is common in the neonate.[]

  • Autosomal Dominant Spastic Ataxia Type 1

    Fryns J-P, Buttiens M: X-linked mental retardation with marfanoid habitus. Am J Med Genet 1987;28:267–274.[] Lujan E, Carlin ME, Lubs HA: A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 1984;17:311–322.[]

  • Ehlers-Danlos Syndrome, Type 8

    Marfan patients generally have a body type called a Marfanoid body habitus.[] Marfanoid habitus isn't a sign of EDS. Marfanoid habitus is a minor Brighton criterion. If Marfanoid habitus is so uncommon, why is it included in the criteria?[] Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, Marfanoid habitus, and distinctive facies. J Am Acad Dermatol . 2006;55:S41-S45. 8.[]

  • Metabolic Disorder of Amino Acids

    habitus, dislocation of lens Venous and arterial thrombosis and cerebral infarcts[] Marfanoid habitus in Homocystinuria), unusual odour (e.g. musty in Phenylketonuria (PKU)), ocular involvement (e.g. cherry red spots in Tay Sachs disease), cataracts (e.g.[] Neonatal encephalopathy, psychomotor retardation Brain swelling, spongy myelinopathy Homocystinuria (cystathionine beta synthase deficiency) Elevated homocysteine Thrombosis, Marfanoid[]

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