What is marfanoid habitus

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health.

Visit the website to explore the biology of this condition. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. Orphanet is a European reference portal for information on rare diseases and orphan drugs.

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FindZebra Diagnosis Assist Tool. Finding Funding Opportunities. Teaching Resources. Global developmental delay. Double-Jointed Flexible joints Increased mobility of joints [ more ]. Long bones slender Thin long bones [ more ]. Long slender fingers Spider fingers [ more ]. Increased width of chin Wide chin [ more ]. Long, narrow head Tall and narrow skull [ more ]. Elevated palate Increased palatal height [ more ]. Wide-set eyes Widely spaced eyes [ more ]. Poorly developed skeletal musculature Underdeveloped muscle [ more ].

Disproportionately large feet large feet long feet [ more ]. Muscular hypotonia. Showing of 11 View All. Long slender fingers. Spider fingers. Elevated palate. Increased palatal height.

IQ between 34 and Joint instability. Lax joints. Big lower jaw. Increased projection of lower jaw. Increased size of lower jaw. Large lower jaw. Prominent chin. Prominent lower jaw. Do you have more information about symptoms of this disease?

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Suggest an update. Summary and related texts. Related genes. Clinical signs. The overlap of marfanoid phenotype in Alport syndrome is apparently being reported for the first time. Our case series highlights that the diagnosis of Alport syndrome is commonly done through ophthalmic portal. Safe and effective phacoemulsification with good visual outcomes is possible in cases with anterior and posterior lenticonus secondary to Alport syndrome.

As there is no specific phenotypic description of Alport syndrome in the literature, less attention is paid to the physical features.

In our case series we found marfanoid habitus in all cases. So, we recommend a thorough physical examination to look for subtle phenotypic features that can be associated with Alport syndrome. Although genetic analysis is warranted to establish the genotype—phenotype correlation, it was not pursued due to feasibility issues.

Br J Ophthalmol ; 50 7 : — Acta Ophthalmol Copenh ; 68 3 : — Indian J Ophthalmol ; 53 3 : — Article Google Scholar.

Grahame R, Hakim AJ. Arachnodactyly—a key to diagnosing heritable disorders of connective tissue. Nat Rev Rheumatol ; 9 6 : — Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule.

Arch Ophthalmol ; 7 : —