PFEIFFER'S SYNDROME

Also known as

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Condition details

A rare genetic disorder resulting from premature fusion of the sutures of the skull and deformity of the skull. Characteristics associated with the disorder include: - Skull is prematurely fused and unable to grow normally (craniosynostosis) - Bulging wide-set eyes due to shallow eye sockets (occular proptosis) - Underdevelopment of the midface - Broad, short thumbs and big toes - Possible webbing of the hands and feet - Dental problems due to crowded teeth and often a high palate - Poor vision - Hearing loss in about 50% of children It affects 1 in over 100,000 people per year. It is named after Rudolf Arthur Pfeiffer who in 1961 described a list of features linked to this condition. This condition is divided into 3 types: - Type 1 - Most individuals have normal intelligence and a normal life span. - Type 2 and 3 - premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • FGFE1
  • FGFR2

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

There is a 50% chance that the patient's children will be born with the disorder.

How many are affected?

1 in 100,000

Support groups and organisations

No groups found

Known experts

No experts found

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