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754 Possible Causes for Homocystinuria, Possibly Scoliosis, Tall Stature

Did you mean: Homocystinuria, Possibly, Scoliosis, Tall Stature

  • Marfan Syndrome

    […] described in 1896 by Antoine Bernard-Jean Marfan , French pediatrician (1858-1942). patients with Loeys-Dietz syndrome have similar features to Marfan syndrome patients with homocystinuria[radiopaedia.org] Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years.[nlm.nih.gov] It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder[icd9data.com]

  • Homocystinuria

    Patients with homocystinuria can present at birth or later in life.[symptoma.com] The two diseases should be differentiated because of the thrombotic risk in homocystinuria, and also because in this disease there is a possibility of treating the biochemical[online.boneandjoint.org.uk] Autosomal recessive disease caused by cystathionine synthase deficiency Patients normal at birth, then begin to develop developmental delays History / PE : Marfan features (tall[medlibes.com]

  • Tollner-Horst-Manzke Syndrome

    […] type cblC Methylmalonic acidemia with homocystinuria type cblD Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria type cblJ Methylmalonic[rarediseases.info.nih.gov] Syndrome dicarboxylic aminoaciduria diffuse infiltrative lymphocytosis syndrome Digitorenocerebral Syndrome Dincsoy Salih Patel Syndrome Dislocated Elbows, Bowed Tibias, Scoliosis[rgd.mcw.edu] […] due to CBS deficiency Homocystinuria due to MTHFR deficiency Horizontal gaze palsy with progressive scoliosis Hoyeraal Hreidarsson syndrome Hunter Carpenter Macdonald syndrome[rarediseases.info.nih.gov]

  • Sotos Syndrome

    Simpson-Golabi-Behmel syndrome; Fragile X syndrome; Bannayan-Zonana syndrome; PTEN mutations; Trisomy 15q26-qter; Nevo syndrome; Neurofibromatosis I; Marshall syndrome; Marfan syndrome; Homocystinuria[ncbi.nlm.nih.gov] Other possible symptoms and signs can include: behavioral disturbances, intellectual disability, scoliosis, seizures, heart defects, kidney defects, weak muscle tone, stuttering[medicinenet.com] Constitutional tall stature Tall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous[childgrowthfoundation.org]

  • Ectopia Lentis

    Homocystinuria is a genetically determined error of metabolism of the amino acid, methionine, which results in increased levels of homocystine and methionine in the blood[ncbi.nlm.nih.gov] […] arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis[ncbi.nlm.nih.gov] MARFAN SYNDROME  Salient features:  Skeletal Manifestations  Tall stature  Increased arm span in relation to body height and elongated lower segment  Arachnodactyly [slideshare.net]

  • Gigantism

    Metabolic: Marfan’s syndrome, homocystinuria. Miscellaneous: Cerebral gigantism, overeating.[medcaretips.com] Voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad[ncbi.nlm.nih.gov] This boy appears likely to have neurofibromatosis type 1 (NF1) which raises the question of subtle GH excess in NF1 patients with tall stature.[ncbi.nlm.nih.gov]

  • Congenital Contractural Arachnodactyly

    Its similarities to Marfan's syndrome and homocystinuria, as well as other syndromes, are discussed.[ncbi.nlm.nih.gov] Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs.[ncbi.nlm.nih.gov] Marfanoid habitus : Tall stature, arachnodactyly, arm span height. Other features : include laxity of patella, pectus and keratoconus.[genetics4medics.com]

  • Chudley-Rozdilsky Syndrome

    Cirrhosis associated cardiac dysfunction), 간경 변성 심근병증 (Cirrhotic cardiomyopathy), 클락슨 병 (Clarkson disease), 전형적 호지킨 병 (Classical Hodgkin disease), 전형적인 호모시스틴뇨증 (Classical homocystinuria[yumpu.com] It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.[linkedlifedata.com] stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0001519 15 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494 16 hypoplasia of penis[malacards.org]

  • Disorder of Sulfur-Bearing Amino Acid Metabolism

    Homocystinuria, hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid.[britannica.com] DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY CPT 72081 - Radiologic examination, spine, entire thoracic and lumbar, including skull, cervical and sacral spine if performed (eg, scoliosis[codingprime.blogspot.com] , not elsewhere classified NOS constitutional Laron-type psychosocial ( E 344 ) Constitutional tall stature ( E 345 ) Androgen resistance syndrome Reifenstein's syndrome ([psychology.wikia.com]

  • Marshall-Smith Syndrome

    Autonomic Neuropathy Hereditary Sensory Motor Neuropathy (Charcot Marie Tooth Disease) Herrmann syndrome Heterotopias Holoprosencephaly (Aprosencephaly) Holt-Oram syndrome Homocystinuria[de.slideshare.net] […] laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis[ncbi.nlm.nih.gov] stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537[rarediseases.info.nih.gov]

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