Marfan Syndrome
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]
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]
MEN 2B is characterized by the combined occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and Marfanoid habitus.[ncbi.nlm.nih.gov]
Homocystinuria
habitus, osteoporosis, attention deficit and hyperactivity disorder.[ncbi.nlm.nih.gov]
Gene CBS (AR) Diagnostic Test Plasma Total Homocysteine, Urine Organic Acids Neurological Psychosis/depression, behavioral disturbances, stroke, dystonia Non-Neurological Marfanoid[treatable-id.org]
Without treatment , symptoms vary widely and may present at different ages, ranging from lens dislocation, poor vision, developmental delays, marfanoid habitus, and acute[medicalhomeportal.org]
Ehlers Danlos Syndrome
habitus.[bestpractice.bmj.com]
habitus, microcornea, radiographically considerable osteopenia, and positive family history are classified as minor diagnostic criteria for the disease[ 1 ].[ncbi.nlm.nih.gov]
Marfanoid habitus This may be present in association with EDS (usually incomplete).[online.epocrates.com]
Goldberg-Shprintzen Syndrome
Craniosynostosis syndrome associated with marfanoid habitus and intellectual difficulty.[genetics4medics.com]
habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.[orpha.net]
habitus and additional dysmorphic stigmata.[thejns.org]
Multiple Endocrine Neoplasia
He lacked the classic marfanoid habitus, but had mucosal neuromas and thickened corneal nerves.[ncbi.nlm.nih.gov]
MEN 2A is further associated with primary hyperparathyroidism as well, while MEN 2B causes a marfanoid habitus and sometimes neurinomas.[amboss.com]
MEN2B Marfanoid habitus Mucosal neuromas on lips, tongue and eyelids. Note that Abraham Lincoln was said (apocryphally?)[medicalmediareview.com]
Primary Hypertrophic Osteoarthropathy
BACKGROUND: Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis is a rare genetic disease which predominantly affects skin, bone and soft connective tissue. It is characterized by the triad of pachydermia, digital clubbing and periostosis of long bones. Arthralgia or arthritis is also[…][ncbi.nlm.nih.gov]
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 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]
The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear[ncbi.nlm.nih.gov]
Brittle Cornea Syndrome
MEN2B, however, is distinguished by multiple mucosal neuromas and distinctive marfanoid body habitus.[dermatologyadvisor.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]