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Marfanoid

Collection of signs that resemble Marfan syndrome

Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 times the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity. TOC

Signs and symptoms

Arachnodactyly (long fingers), long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in CT scan reports), and imprecise articulation of speech due to high-arched palate are all considered Marfanoid symptoms. Language and cognition can be affected in neonatal Marfan syndrome where intellectual disability exists. Hearing may be impaired, either by conductive loss due to hypermobility of ossicles, by inflamed tympanic membrane, or sensorineurally through the vestibular aqueduct. In cases with hearing impairment, giddiness and imbalance may co-occur. Other symptoms include crowding of teeth and long or flat feet, often with hammer toes.

Associated conditions

Marfanoid habitus is a constellation of symptoms which are generally associated with other syndromes such as Ehlers-Danlos syndrome (including often being seen in the Hypermobile type), Perrault syndrome and Stickler syndrome. Associated conditions include:

Multiple endocrine neoplasia type 2B
Homocystinuria
Ehlers-Danlos syndrome: Marfanoid habitus is generally associated with kyphoscoliotic Ehlers-Danlos.
Snyder–Robinson syndrome at SMS, whose incidence is about 1 in 5,000-10,000 in all ethnic groups
Perrault syndrome : Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Diagnosis

Medical diagnostic criteria to differentiate Marfanoid habitus from Marfan syndrome:

Marfanoid habitus	Marfan syndrome	Arm span to height ratio	Scoliosis
1.03	1.05
5°	20°

References

(November 2004). "Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report". South. Med. J..
(January 2008). "Failure to recognize multiple endocrine neoplasia 2B: more common than we think?". Ann. Surg. Oncol..
(1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency".
Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 2 [Updated 2013 Jan 24]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1462/

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

congenital-disorders

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