Acrocephalosyndactyly, type V; ACSV Syndrome; Craniofacial-Skeletal-Dermatologic Dysplasia; Noack Syndrome; Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome is a rare genetic condition of early childhood in which the bones, primarily in the skull, fuse prematurely.

There are three subtypes of Pfeiffer Syndrome. In Types II and III, fusion of skull bones prevents normal brain growth, resulting in severe intellectual and neurological impairment. Pfeiffer Syndrome Type I is significantly milder, and usually does not affect intellectual development or lifespan.

Diagnostic testing: Clinical diagnosis is based on presence of the physical characteristics distinct to Pfeiffer Syndrome and can be confirmed through molecular genetic testing showing mutation of the FGFR2 gene.

Physical findings: Symptoms of Pfeiffer Syndrome Types II and III include:

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  Elongated skull structure (craniosynostosis);

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  Tri-lobed "cloverleaf" shaped skull (Type II only);

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  Facial asymmetry;

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  High, broad forehead;

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  Bulging, wide-set eyes;

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  Beak-shaped nose;

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  Low-set ears;

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  Underdeveloped jaw;

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  Broad thumbs; and

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  Joint immobility.

ICD-9: 755.55

ICD-10: Q87.0

The outlook for children with Pfeiffer Syndrome Types II and III is generally poor. Even with treatment, early mortality is common due to breathing problems caused by malformation of the skull.

There is no cure for Pfeiffer Syndrome. Treatment is symptomatic and supportive.

Surgical intervention in early infancy to correct the shape of the skull, along with physical therapy, can improve long-term outcomes and quality of life. However, all individuals with Pfeiffer Syndrome Types II and III require lifelong treatment and assistance with activities of daily living.

Suggested MER for Evaluation:

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  Clinical history and examination that describes that diagnostic features of the impairment; and

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  Laboratory tests confirming mutation of the FGFR2 gene.

Suggested Listings for Evaluation:

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