Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Classic Congenital Contractural Arachnodactyly

System/ConcernEvaluationComment
Musculoskeletal Orthopedics: joint contractures, bowed long bones; kyphoscoliosisKyphoscoliosis may be congenital, is progressive, & warrants early eval.
Assessment by physiatrist, OT/PT of fine motor & gross motor skills related to contractures & muscular hypotonia
Cardiovascular Assessment for aortic root dilatationThe risk for aortic root dilatation is low & progression uncommon; but assessing aortic root dilatation at an early stage is important for determining frequency of further cardiovascular follow up.
Ophthalmologic Flat cornea / keratoconusLow risk
Orthodontic Highly arched palate, dental crowdingA highly arched palate is also assoc w/↑ incidence of middle ear infections.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselor

OT = occupational therapy; PT = physical therapy

From: Congenital Contractural Arachnodactyly

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