Pfeiffer Syndrome

Pfeiffer Syndrome
This disorder is caused by several mutations that cause severe skull and skeletal deformities. Mutations in the same gene cause other syndromes such as Crouzon, Apert, and Jackson-Weiss with many overlapping features.

Pfeiffer syndrome
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Pfeiffer syndrome
National Organization for Rare Disorders, Inc.
Synonyms ...

What is Pfeiffer syndrome?
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis).

Pfeiffer syndrome - A birth defect characterized by abnormalities of the skull, hands, and feet.
Phalen's test - Test for carpal tunnel syndrome in which the wrists are flexed for one minute.

Pfeiffer syndrome see Craniofacial Conditions
PFFD see Lower Limb Abnormalities
PFIC see Liver disease
Phenylketonuria
PHHI see Congenital Hyperinsulinism
Phobia see Anxiety disorders
PHP see Albright Hereditary Osteodystrophy ...

Pfeiffer syndrome - A birth defect characterized by abnormalities of the skull, hands, and feet.

Pfeiffer syndrome
Pfeiffer-Weber-Christian syndrome
Pfizerpen - Medication
PFKM Deficiency
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There are three types of Pfeiffer syndrome with varying degrees of severity.

Pfeiffer syndrome
Pfeiffer-Weber-Christian syndrome
PFKM Deficiency
PGA II
PGA Syndrome Type 1
PGK
PH Type I
Phacoemulsion Cataract Surgery
Phakomatosis TS
Phalangeal head resection (arthroplasty) for toe joint deformities ...

Crouzon syndrome
Hurler syndrome
Pfeiffer syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome (Russell-Silver dwarf)
Use of the antiseizure drug trimethadione during pregnancy
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Apert syndrome
Carpenter syndrome
Cornelia de Lange syndrome
Pfeiffer syndrome
Smith-Lemli-Opitz syndrome
Using the medication hydantoin during pregnancy (Fetal hydantoin effect) ...

Cleidocranial dysostosis
Crouzon syndrome
Hurler syndrome
Pfeiffer syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome (Russell-Silver dwarf)
Use of the antiseizure drug trimethadione during pregnancy ...

Pfeiffer syndrome, which affects one in every 100,000 children and disrupts bone growth, resulting in deformities of the head and face; it also causes big toes, wide thumbs and webbed hands and feet ...

Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)
Crouzon disease (craniofacial dysostosis)
Saethre-Chotzen syndrome
Pfeiffer syndrome ...

As a result, your child's brain's growth is inhibited and your child's head develops into an abnormal shape. Other conditions often associated with craniosynostosis include Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, ...

Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems).

See also: Symptom, Fusion, Craniosynostosis, Surgery, Syndactyly