Marfanoid-habitus: Causes & Reasons

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Possible Causes for marfanoid habitus

Marfan Syndrome

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]

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

Case 2 Clinical Data A 29-year-old woman with marfanoid habitus had aortic arch dissection and underwent corrective surgery. [doi.org]

Multiple Endocrine Neoplasia Type 2B

[…] 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]

The characteristic phenotype including mucosal neuromas, musculoskeletal abnormalities and a marfanoid habitus led us to suspect this diagnosis, which was confirmed by the [ncbi.nlm.nih.gov]

Homocystinuria

habitus, osteoporosis, attention deficit and hyperactivity disorder. [ncbi.nlm.nih.gov]

Homocystinuria was first described in 1962 as the constellation of tall, thin body type (so-called Marfanoid habitus), lens subluxation with high myopia, frequent developmental [jci.org]

Without treatment, symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute thromboembolism [medicalhomeportal.org]

Familial Medullary Thyroid Carcinoma

" habitus. [ncbi.nlm.nih.gov]

MEN 2B consists of MTC, pheochromocytoma, a marfanoid habitus, and ganglioneuromas of the intestinal tract mucosa. [shifrinmd.com]

MEN 2B has additional stigmata including a marfanoid habitus, mucosal neuromas, and corneal nerve thickening. In FMTC, the only lesion present is MTC. [jmg.bmj.com]

Ectopia Lentis

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]

habitus). [ncbi.nlm.nih.gov]

Ehlers-Danlos Syndrome

habitus. [bestpractice.bmj.com]

Homocystinuria also results in a Marfanoid habitus but presents with inferior and medial displacement of the lens ( downward and inward )! [amboss.com]

Homocystinuria also results in a Marfanoid habitus but presents with inferior and medial displacement of the lens (downward and inward)! [amboss.com]

Multiple Endocrine Neoplasia

He lacked the classic marfanoid habitus, but had mucosal neuromas and thickened corneal nerves. [ncbi.nlm.nih.gov]

MEN2B Marfanoid habitus Mucosal neuromas on lips, tongue and eyelids. Note that Abraham Lincoln was said (apocryphally?) [medicalmediareview.com]

MEN 2A is further associated with primary hyperparathyroidism as well, while MEN 2B causes a marfanoid habitus and sometimes neurinomas. [amboss.com]

Multiple Endocrine Neoplasia Type 2A

These features, along with thickened lips and eyelids are associated with Marfanoid habitus (the features of Marfan syndrome). What is the cause of MEN type 2B disease? [dermnetnz.org]

[citation needed] MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50% of cases, with marfanoid habitus and with mucosal and digestive neurofibromatosis [en.wikipedia.org]

These features, along with thickened lips and eyelids are associated with Marfanoid habitus (the features of Marfan syndrome ). What is the cause of MEN type 2B disease? [dermnetnz.org]

Goldberg-Shprintzen Syndrome

habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. [orpha.net]

Craniosynostosis syndrome associated with marfanoid habitus and intellectual difficulty. [genetics4medics.com]

habitus and additional dysmorphic stigmata. [thejns.org]

Melhem-Fahl Syndrome

habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly [statemaster.com]

habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation, unexplained Mental retardation-polydactyly-uncombable hair Merlob Grunebaum [mindmappedia.com]

habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation Mental retardation-polydactyly-uncombable hair Mercury poisoning Meretoja [bioreference.net]

Malignant Hyperthermia - Arthrogryposis - Torticollis

habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly [en.wikipedia.org]

Mental retardation, X linked, Marfanoid habitus[?] Mental retardation, X linked, nonspecific[?] Mental retardation, X-linked 14[?] [encyclopedia.kids.net.au]

habitus Mental retardation, X linked, nonspecific Mental retardation, X-linked 14 Mental retardation Mental retardation-polydactyly-uncombable hair Mer-Mes Mercury poisoning [thefullwiki.org]

Camurati-Engelmann Syndrome

During the study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations of the disorder, such as marfanoid habitus, waddling gait, muscular [ncbi.nlm.nih.gov]

Gene TGF-β1 gene, 19q13.2 (OMIM gene/locus number *190180 ) Phenotype Marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip [iofbonehealth.org]

Congenital Contractural Arachnodactyly

Abstract Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus, [ncbi.nlm.nih.gov]

The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear [ncbi.nlm.nih.gov]

The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips [ncbi.nlm.nih.gov]

Hypermobility Syndrome

A marfanoid habitus and hyperextensible skin are seen with hypermobility syndrome. [rheumaknowledgy.com]

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]

Primary Hypertrophic Osteoarthropathy

Pachydermoperiostosis (PDP) is a rare genetic disorder that affects both bones and skin. Other names are idiopathic hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome. It is mainly characterized by pachydermia (thickening of the skin), periostosis (excessive bone formation) and finger clubbing[…] [en.wikipedia.org]

Mononen-Karnes-Senac Syndrome

[…] anomalies-intellectual disability syndrome 2 Cases 217026 Microcephaly-facio-cardio- skeletal syndrome, Hadziselimovic type 5 Cases 2172 Microcephaly- glomerulonephritis-marfanoid [azkurs.org]

habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly [mindmappedia.com]

Mental retardation, X linked, Marfanoid habitus[?] Mental retardation, X linked, nonspecific[?] Mental retardation, X-linked 14[?] [encyclopedia.kids.net.au]

Myelocerebellar Disorder

habitus * Mental retardation, X linked, nonspecific * Mental retardation, X-linked 14 * Mental retardation * Mental retardation-polydactyly-uncombable hair Mer-Mes * Mercury [en.academic.ru]

habitus Microcephaly hiatus hernia nephrotic syndrome Microcephaly hypergonadotropic hypogonadism short stature Microcephaly immunodeficiency lymphoreticuloma Microcephaly [thefullwiki.org]

habitus * Microcephaly hiatus hernia nephrotic syndrome * Microcephaly hypergonadotropic hypogonadism short stature * Microcephaly immunodeficiency lymphoreticuloma * Microcephaly [en.academic.ru]

Multiple Endocrine Neoplasia Type 4

habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon; and MEN4, which is also referred to as MENX, is [f1000.com]

habitus Mnemonic: PMMM See also MEN1 (Wermer syndrome) MEN2 (multiple endocrine adenomatosis) MEN2a (Sipple syndrome) MEN2b (mucosal neuroma syndrome) familial medullary [radiopaedia.org]

Signs/symptoms Typically, the first clinical signs of MEN2B are gastrointestinal symptoms (most commonly constipation), mucosal neuromas, and marfanoid habitus [5]. [webeye.ophth.uiowa.edu]

Keratoglobus

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]

Brittle Cornea Syndrome Type 1

MEN2B, however, is distinguished by multiple mucosal neuromas and distinctive marfanoid body habitus. [dermatologyadvisor.com]

Medullary Thyroid Carcinoma

habitus, mucosal neuromas, and Hirschsprung’s disease. [onclive.com]

Men2B may have a marfanoid habitus with mucosal neuromas Causes Medullary carcinoma of the thyroid (MTC) has a genetic association with multiple endocrine neoplasia (MEN) [reference.medscape.com]

habitus, which includes: very long slender body, including unusually long and hyperflexible limbs, a crowded arrangement of teeth and possibly a high arch of the palate. [endocrineweb.com]

Disorder of Sulfur-Bearing Amino Acid Metabolism

Possible Signs and symptoms A family history of homocystinuria [ 2 ] Flush across the cheeks Musculoskeletal Tall, thin build (resembling Marfanoid habitus ) [ 1 ] Long limbs [dictionnaire.sensagent.leparisien.fr]

Patients can have a marfanoid habitus even though they are not usually tall. [msdmanuals.com]

Hyperextensible Joints

Marfanoid habitus is absent. [rheumatologyadvisor.com]

Marfanoid habitus (tall, slim, span/height ratio 1.03, upper: lower segment ratio less than 0.89, arachnodactily [positive Steinberg/wrist signs]. [shoulderdoc.co.uk]

Homocystinuria also results in a Marfanoid habitus but presents with inferior and medial displacement of the lens (downward and inward)! [amboss.com]

Spondylo-Ocular Syndrome

Marfanoid habitus is absent. [rheumatologyadvisor.com]

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis. 2007;13:1280–4. [bmcmusculoskeletdisord.biomedcentral.com]

Homocystinuria Characterized by Marfanoid habitus, developmental delay, thrombosis, myopia, and ectopia lentis. [rheumatologyadvisor.com]

Metabolic Syndrome

Marfanoid habitus 52, 53. Neonatal progeroid syndrome, type B CAV1 Caveolin 1, present on adipocyte membranes, binds fatty acids and translocates them to lipid droplets. [ncbi.nlm.nih.gov]

Isolated Ectopia Lentis

COMMONLY ASSOCIATED CONDITIONS • Marfan syndrome: Aortic root dilation, Marfanoid habitus, pectus excavatum/carinatum, and other features. • Ehlers–Danlos: joint laxity, “ [entokey.com]

Patients typically have fair skin with coarse hair, osteoporosis, mental retardation (nearly 50%), seizure disorder, marfanoid habitus, and poor circulation. [emedicine.medscape.com]

habitus, flexion contractures, abnormal pinnae, muscular hypoplasia, and rarely, aortic-root dilatation. 8, 9 Fibrillin, a large glycoprotein (350 kd), is one of the structural [nejm.org]

Ductus Arteriosus Aneurysm

In particular, there was no marfanoid habitus, heart sounds were normal, and peripheral pulses were preserved. [circ.ahajournals.org]

No symptoms were found on physical exam on admission, no murmurs were auscultated, peripheral pulses were preserved and there was no Marfanoid habitus. [revespcardiol.org]

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006; 1 : 26. 68. Stathopulu E, Ogilvie CM, Flinter FA. [nature.com]

Scoliosis

[…] body habitus and LENKE IA type scoliosis with the right thoracic curve of 48 of Cobb angle was admitted for posterior spinal fusion from Th6 to L2. [ncbi.nlm.nih.gov]

[…] ischemia detected by multimodal intraoperative spinal cord neuromonitoring (MISNM) during posterior correction surgery of adolescent idiopathic scoliosis.A patient with a marfanoid [ncbi.nlm.nih.gov]

Cold-Induced Sweating Syndrome Type 1

In adolescence to adulthood, she showed a Marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with [pesquisa.bvsalud.org]

habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a nose with hypoplastic nares, malar [wikidoc.org]

[…] whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[3] Other characteristic features in CRLF1 mutation include marfanoid [wikidoc.org]

Popliteal Aneurysm

The patient’s marfanoid habitus also may have played a part. [pmj.bmj.com]

This case emphasises the mixed aetiology of popliteal aneurysms. aneurysm polycystic kidney marfanoid habitus Statistics from Altmetric.com aneurysm polycystic kidney marfanoid [pmj.bmj.com]

Bilateral popliteal aneurysms complicating adult polycystic kidney disease in a patient with a marfanoid habitus W Al-Hakim, D J A Goldsmith Guy’s and St Thomas’ NHS Trust [pmj.bmj.com]