Marfanoid (or Marfanoid habitus) is a constellation of signs 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 dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically ha ...

, 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. __TOC__

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 (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others ...

(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 s ...

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 irregular bones in the middle ear of humans and other mammals, and are among the smallest bones in the human body. Although the term "ossicle" literally means "tiny bone" (from Latin ''ossi ...

, 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 changes in pressur ...

, or sensorineurally through the

vestibular aqueduct At the posterior lateral wall of the temporal bone is the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. The vestibular aqueduct parallels the petrous apex, in contrast to the cochlear ...

. 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 (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 ...

* 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 generally associated with kyphoscoliotic Ehlers-Danlos. *

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 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 phones exchange short text messages, t ...

, whose incidence is about 1 in 5,000-10,000 in all ethnic groups *

Perrault syndrome XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. Individuals with XX gonadal dysgenesis have normal-appearing external geni ...

: Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Diagnosis

Medical diagnostic criteria to differentiate Marfanoid habitus from

References

{{reflist Congenital disorders