Beare Stevenson Syndrome; Beare-Stevenson Syndrome; BSTVS; Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis; Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome; Cutis Gyrata Syndrome of Beare and Stevenson

Beare-Stevenson cutis gyrata syndrome is a genetic disorder often caused by de novo (new) mutations in the FGFR2 gene. It is characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Airway complications are a significant concern in affected individuals.

Diagnostic testing: Diagnostic testing for Beare-Stevenson cutis gyrata syndrome may include:

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  Clinical evaluation;

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  Computerized tomography (CT) scan;

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  Genetic testing;

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  Magnetic resonance imaging (MRI);

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  Skin biopsies; and

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  X-rays.

Signs and symptoms: Signs and symptoms of Beare-Stevenson cutis gyrata syndrome may include:

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  Abnormality of the genitalia and anus;

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  Acanthosis nigricans (darkened and thickened skin);

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  Aplasia/hypoplasia of the earlobes;

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  Cloverleaf-shaped skull;

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  Craniosynostosis (premature closure of cranial sutures);

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  Cutis gyrata (excessive skin folds);

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  Depressed nasal bridge;

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  Developmental delay;

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  Downslanted palpebral fissures;

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  Ptosis (drooping upper eyelid);

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  Respiratory distress; and

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  Subcutaneous nodule (firm lump under the skin).

ICD-9: 759.89

ICD-10: Q82.8; Q84.8; Q87.8

Beare-Stevenson cutis gyrata syndrome has a very poor prognosis with most afflicted children dying before age 5. The condition is associated with a higher risk of sudden death, particularly in the first year of life. Even with appropriate medical care, death often occurs in infancy.

Most children who survive infancy have significant developmental delays and intellectual disability.

There is no cure for Beare-Stevenson cutis gyrata syndrome. Treatment is primarily supportive, based on the specific manifestations of the disorder. This may include surgical correction of craniosynostosis, treatment of ear abnormalities, and management of skin and anogenital anomalies. Regular monitoring for respiratory compromise is crucial due to the elevated risk of sudden death.

Suggested MER for Evaluation:

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  Clinical evaluation;

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  Genetic testing;

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  Results of imaging studies (i.e., MRI, CT scan, x-ray) to evaluate craniosynostosis; and

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  Skin biopsies.

Suggested Listings for Evaluation:

102.10

102.11

103.02

103.06

103.14

108.09

110.08

112.05

112.14

Listing level severity must be documented.