Pfeiffer Syndrome

Alternative Names

  • Acrocephalosyndactyly, Type V
  • ACS5
  • ACS V
  • Noack Syndrome
  • Craniofacial-Skeletal-Dermatologic Dysplasia
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

101600

Mode of Inheritance

Autosomal dominant

Gene Map Locus

8p11.23,10q26.13

Description

Pfeiffer Syndrome is a very rare genetic disorder characterized by craniosynostosis, which is a condition caused by premature fusion of cranial sutures. Affected individuals have characteristic facial features such as, wide-set eyes, short head with an unusually pointed top, high forehead, midface hypoplasia, flattened nasal bridge, and underdeveloped upper jaw. Digital abnormalities seen may include large thumbs and big toes which bend outwards, as well as brachydactyly and syndactyly. Pfeiffer Syndrome is grouped into three different types based on the severity of the condition. Type I is the least severe of these forms and is characterized by the above mentioned symptoms. Some patients may also have hearing loss and/or dental abnormalities. There are no mental or neurological complications associated with type I and affected patients show normal intelligence and life span. Types II and III, however, are associated with neurological complications, and are therefore, more severe.

Mutations in the Fibroblast Growth Factor Receptor genes, FGFR1 and FGFR2, are responsible for causing Pfeiffer syndrome.

Epidemiology in the Arab World

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Other Reports

Oman

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, one child was born with Pfeiffer syndrome.

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