Marfanoid (or Marfanoid habitus) is a constellation of

symptoms Signs and symptoms are the observed or detectable signs, and experienced symptoms of an disease, illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormali ...

resembling those of

Marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a ...

, 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 Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the h ...

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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 Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...

(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 A high-arched palate (also termed high-vaulted palate) is where the palate is unusually high and narrow. It is usually a congenital developmental feature that results from the failure of the palatal shelves to fuse correctly in development, the sa ...

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 The ossicles (also called auditory ossicles) are three bones in either middle ear that are among the smallest bones in the human body. They serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). The absence of the auditory ...

, 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 air ...

, 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: * Multiple endocrine neoplasia type 2B *

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 inh ...

* 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 Snyder–Robinson syndrome (SRS) is an extremely rare inherited genetic disorder characterized by muscular and skeletal abnormalities, varying degrees of intellectual disability, seizures, and slow development. SRS is caused by a mutated ''SMS'' ...

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 Perrault may refer to: * Perrault (surname), people with the surname * Perrault (horse) {{Infobox racehorse , horsename = Perrault , image = , caption = , sire = Djakao , grandsire = Tanerko , dam = Innocent Air , damsire = Court Mart ...

: Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Diagnosis

Medical diagnostic criteria to differentiate Marfanoid habitus from

References

Congenital disorders {{genetic-disorder-stub