Marfanoid

Arachnodactyly (long fingers), long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in an CT scan reports), and speech characteristic of imprecise articulation due to high arched palate are all considered Marfanoid. Language and cognitive can affected in neonatal Marfan syndrome were intellectual disability exists and a hearing impairment of conductive loss due to hypermobility of ossicles or inflamed tympanic membrane and a sensorineural hearing impairment is due to the vestibular aqueduct plus cofactor symptoms of giddiness and imbalance may occur. Crowding of teeth and long or flat feet, often with hammer toes, may also be present.

Medical diagnostic criteria to differentiate Marfanoid habitus from Marfan syndrome :

Marfanoid habitus is a connective tissue disorder which is generally associated with other syndrome 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 an connective tissue disorder which is generally associated with Ehlers-Danlos syndrome type 3 (hypermobility type).It is an autosomal dominant inherited or new mutation in chromosome 15.
• Snyder–Robinson syndrome at fibrillin 2, where the incidence shows 1 in 5,000-10,000 in all ethnic group
• Perrault syndrome : Marfanoid habitus is a nonspecific feature of Perrault syndrome.