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 an CT scan reports), and speech characteristic of imprecise articulation due to high-arched palate are all considered Marfanoid. Language and cognitive can be affected in neonatal Marfan syndrome where 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.

Associated conditions

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
• Homocystinuria
• Ehlers-Danlos syndrome: Marfanoid habitus is a 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 SMS, where the incidence shows 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 :