Marfanoid
Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
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, Perrault syndrome and Stickler syndrome. Associated conditions include:
- Multiple endocrine neoplasia type 2B[1][2]
- Homocystinuria[3]
- Ehlers-Danlos syndrome:[4] Marfanoid habitus is a connective tissue disorder which is generally associated with Ehlers-Danlos syndrome type 3 (hypermobility type). It is an autosomal dominant mutation in chromosome 15, which may be inherited or occur spontaneously.
- 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 | >1.03 | >1.05 |
| Scoliosis | >5° | >20° |
References
- ↑ Prabhu M, Khouzam RN, Insel J (November 2004). "Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report". South. Med. J. 97 (11): 1130–2. doi:10.1097/01.SMJ.0000140873.29381.12. PMID 15586612. S2CID 27428744.
- ↑ Wray CJ, Rich TA, Waguespack SG, Lee JE, Perrier ND, Evans DB (January 2008). "Failure to recognize multiple endocrine neoplasia 2B: more common than we think?". Ann. Surg. Oncol. 15 (1): 293–301. doi:10.1245/s10434-007-9665-4. PMID 17963006. S2CID 2564555.
- ↑ Pagon, RA.; Bird, TC.; Dolan, CR.; Stephens, K.; Picker, JD.; Levy, HL. (1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency". PMID 20301697.
{{cite journal}}: Cite journal requires|journal=(help) - ↑ 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/