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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pfeiffer syndrome


Other Names for this Disease

  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Pfeiffer syndrome?

The presence and severity of signs and symptoms of Pfeiffer syndrome differ depending on the type of Pfeiffer syndrome an affected individual has. Type I is mild compared to types II and III.

Infants with Pfeiffer syndrome type I have craniosynostosis that causes the head to appear vertically elongated. Other distinctive facial characteristics associated with type I may include a high, full forehead; underdeveloped mid-facial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), with a prominent lower jaw; and dental abnormalities. Affected individuals usually have normal intelligence and a good prognosis with a normal life span.

Individuals with Pfeiffer syndrome type II typically have more severe craniosynostosis, more severe hand and foot anomalies, and additional malformations of the limbs. Infants with type II have a form of craniosynostosis that causes the skull to have a "tri-lobed" appearance (called a "cloverleaf skull" deformity). This type of craniosynostosis is often associated with hydrocephalus, which causes increased pressure on the brain. Distinctive facial characteristics associated with type II may include an abnormally high, broad forehead; severe protrusion of the eyes (ocular proptosis); an unusually flat middle portion of the face (midface hypoplasia); a "beak-shaped" nose; and low-set ears. Infants may also have lack of mobility of the elbow joints and/or various abnormalities in some of the internal organs in the abdomen (visceral anomalies). Infants with type II often have intellectual disabilities and neurological problems due to the severe involvement of the brain. The physical abnormalities associated with type II can lead to life-threatening complications without appropriate treatment.

Pfeiffer syndrome type III is very similar to type II, the exception being that individuals with type II do not have the cloverleaf skull deformity. The features associated with type III may include a shortened base of the skull ; the abnormal presence of teeth at birth (natal teeth); ocular proptosis; and/or various visceral anomalies. As in type II, individuals with type III often have intellectual disabilities and severe neurological problems.[1]
Last updated: 7/25/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of thumb phalanx 90%
Cheekbone underdevelopment 90%
Ptosis 90%
Brachydactyly syndrome 50%
Clinodactyly of the 5th finger 50%
Finger syndactyly 50%
High forehead 50%
Hypertelorism 50%
Symphalangism affecting the phalanges of the hand 50%
Wide nasal bridge 50%
Abnormality of the hip bone 7.5%
Abnormality of the palate 7.5%
Cloverleaf skull 7.5%
Facial asymmetry 7.5%
Hyperlordosis 7.5%
Malar flattening 7.5%
Mandibular prognathia 7.5%
Open mouth 7.5%
Short neck 7.5%
Short philtrum 7.5%
Short stature 7.5%
Synostosis of carpal bones 7.5%
Arnold-Chiari malformation -
Autosomal dominant inheritance -
Brachyturricephaly -
Broad hallux -
Broad thumb -
Bronchomalacia -
Cartilaginous trachea -
Choanal atresia -
Choanal stenosis -
Coronal craniosynostosis -
Dental crowding -
Depressed nasal bridge -
Elbow ankylosis -
High palate -
Humeroradial synostosis -
Hydrocephalus -
Hypoplasia of the maxilla -
Intellectual disability -
Shallow orbits -
Short middle phalanx of toe -
Short nose -
Shortening of all middle phalanges of the fingers -
Strabismus -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Robin NH. Pfeiffer syndrome. NORD. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/502/viewAbstract. Accessed 7/25/2014.


Other Names for this Disease
  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.