COSTELLO SYNDROME
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ALTERNATE NAMES
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Congenital Myopathy with Excess of Muscle Spindles; Faciocutaneoskeletal Syndrome;
FCS Syndrome
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DESCRIPTION
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Costello syndrome is a rare condition that affects many different parts of the body. Costello syndrome
belongs to the RASopathies, a group of conditions resulting from germline derived
point mutations affecting the RAS-mitogen activated protein kinase pathway.
Signs and symptoms generally include developmental delay, intellectual disability,
distinctive facial features, loose folds of extra skin (especially on the hands and
feet), and unusually flexible joints. Cardiac and neurological involvement is common
and there is an increased lifetime risk of certain tumors.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Costello syndrome diagnosis occurs in early childhood. The diagnosis of Costello
syndrome is made by:
Physical findings: Symptoms of Costello syndrome include:
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Feeding difficulties during infancy that sometimes require a feeding tube;
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Heart problems (arrhythmia, hypertrophic cardiomyopathy);
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Curve of the spine (scoliosis or kyphosis);
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Intellectual disability (mild to moderate) and growth abnormalities of the brain (Chiari
malformation);
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Vision and dental problems;
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Structural kidney differences; and
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Weak muscle tone (hypotonia).
ICD-9:759.89
ICD-10:Q87.8, Q87.89
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PROGRESSION
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Costello syndrome is a lifelong condition without a cure. The prognosis varies by
the specific missense mutations, with neonatal lethal phenotypes and attenuated phenotypes
reported. The disorder progresses with age and children often show signs of premature
aging, osteoporosis, and osteopenia. An increased risk of about 10 to 15 percent for
solid malignant tumors (embryonal rhabdomyosarcoma, neuroblastoma) in early childhood
and transitional cell carcinoma of the bladder in adolescence is reported.
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TREATMENT
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Treatment for Costello syndrome addresses symptoms of the condition since there’s
no cure. Treatment is directed toward the specific symptoms that are apparent in each
child.
Pediatricians, cardiologists, orthopedists, orthopedic surgeons, dermatologists, speech
pathologists, dietitians, and other health care professionals may need to plan an
affected child’s treatment systematically and comprehensively.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Family medical history; and
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Genetic testing to determine the gene change responsible.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTINGS
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REMARKS
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Meets
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100.05
101.18
101.24
104.05
105.08
105.10
111.02
111.08
111.09
112.05
112.14
113.03
113.21
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Listing level severity must be documented.
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Equals
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*Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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