Marfanoid
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of
hyperlaxity
.
Signs and symptoms
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.[citation needed
]
Associated conditions
Marfanoid habitus is a constellation of symptoms which are generally associated with other syndromes such as Ehlers-Danlos syndrome, Perrault syndrome and Stickler syndrome. Associated conditions include:
- Multiple endocrine neoplasia type 2B[1][2]
- Homocystinuria[3]
- Ehlers-Danlos syndrome:[4]Marfanoid habitus is generally associated with hypermobile 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:[citation needed]
| Marfanoid habitus | Marfan syndrome | |
|---|---|---|
Arm span to height ratio
|
>1.03 | >1.05 |
| Scoliosis | >5° | >20° |
References
- S2CID 27428744.
- S2CID 2564555.
- )
- ^ 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/