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
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ...
, and
hyperlaxity.
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Signs and symptoms
Arachnodactyly
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ...
(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
In the anatomy of humans and various other tetrapods, the eardrum, also called the tympanic membrane or myringa, is a thin, cone-shaped membrane that separates the external ear from the middle ear. Its function is to transmit sound from the a ...
, or sensorineurally through the
vestibular aqueduct
At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone.
It transmits a small vein, and contains a tubular prolongation ...
. 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:
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Multiple endocrine neoplasia type 2B
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Homocystinuria
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to i ...
*
Ehlers-Danlos syndrome:
[Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 2 pdated 2013 Jan 24 In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ nternet Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1462/] 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
Short Message/Messaging Service, commonly abbreviated as SMS, is a text messaging service component of most telephone, Internet and mobile device systems. It uses standardized communication protocols that let mobile devices exchange short text ...
, 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:
References
Congenital disorders
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