Pfeiffer syndrome

Title

Other Names:

ACS5; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5; ACS5; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5; Acrocephalosyndactyly type 5; Noack syndrome; ACSV; Craniofacial-skeletal-dermatologic syndrome; Craniofacial-skeletal-dermatologic dysplasia See More

Categories:

Congenital and Genetic Diseases

Summary Summary

Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems. Other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. It is caused by mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. Pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features.^[1] Management typically includes various surgical interventions.^[2]

Last updated: 7/12/2016

Symptoms Symptoms

The presence and severity of features of Pfeiffer syndrome may differ depending on the type of Pfeiffer syndrome a person has. Type I is considered mild compared to types II and III.

In Pfeiffer syndrome type I, infants have craniosynostosis that causes the head to appear vertically elongated. Distinctive facial features 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. People with type I usually have normal intelligence and a good prognosis with a normal life span.

In Pfeiffer syndrome type II, people typically have more severe craniosynostosis, more severe hand and foot abnormalities, 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 is often associated with hydrocephalus, which causes increased pressure on the brain. Distinctive facial features may include an abnormally high, broad forehead; severe protrusion of the eyes (ocular proptosis); 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 (visceral anomalies). Infants with type II often have intellectual disabilities and neurological problems due to severe brain involvement. 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, but people 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, people with type III often have intellectual disabilities and severe neurological problems.^[3]

Last updated: 7/25/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Broad thumb	Broad thumbs Wide/broad thumb [ more ]	0011304
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Ptosis	Drooping upper eyelid	0000508
30%-79% of people have these symptoms
Brachydactyly	Short fingers or toes	0001156
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Finger syndactyly		0006101
High forehead		0000348
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Symphalangism affecting the phalanges of the hand	Fused finger bones of the hand	0009773
Turricephaly	Tall shaped skull Tower skull shape [ more ]	0000262
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
5%-29% of people have these symptoms
Cloverleaf skull		0002676
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Flat face	Flat facial shape	0012368
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hip dysplasia		0001385
Hyperlordosis	Prominent swayback	0003307
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Short neck	Decreased length of neck	0000470
Short philtrum		0000322
Short stature	Decreased body height Small stature [ more ]	0004322
Synostosis of carpal bones	Fusion of wrist bones	0005048
Percent of people who have these symptoms is not available through HPO
Arnold-Chiari malformation		0002308
Autosomal dominant inheritance		0000006
Brachyturricephaly	High, prominent forehead	0000244
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Bronchomalacia		0002780
Cartilaginous trachea		0005347
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Choanal stenosis	Narrowing of the rear opening of the nasal cavity	0000452
Coronal craniosynostosis		0004440
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Elbow ankylosis		0003070
Humeroradial synostosis	Fusion of upper and lower arm bones	0003041
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Shallow orbits	Decreased depth of eye sockets Shallow eye sockets [ more ]	0000586
Short middle phalanx of toe	Short middle bones (feet)	0003795
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Shortening of all middle phalanges of the fingers	Shortened middle finger bones	0006110
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other acrocephalosyndactyly syndromes (Apert, Crouzon, Carpenter, Saethre-Chotzen, Waardenburg) and other syndromic forms of craniosynostosis such as Jackson-Weiss, Muenke and Antley-Bixler syndromes and Cutis gyrata-acanthosis nigricans-craniosynostosis. Visit the Orphanet disease page for more information.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
Headlines Craniofacial Support
PO Box 13595
LINLITHGOW
EH49 9BD
United Kingdom
Telephone: +44 (0)7500 778965
E-mail: info@headlines.org.uk
Website: http://www.headlines.org.uk/
Hydrocephalus Association
4340 East West Highway Suite 905
Bethesda, MD 20814
Toll-free: 1-888-598-3789
Telephone: +1-301-202-3811
Fax: +1-301-202-3813
E-mail: info@hydroassoc.org
Website: https://www.hydroassoc.org/
Hydrocephalus Canada
16 Four Seasons Place
Suite 111
Toronto, M9B 6E5 Canada
Toll-free: 800-387-1575
Telephone: 416-214-1056
Fax: 416-214-1446
E-mail: provincial@sbhao.on.ca
Website: http://www.hydrocephalus.ca
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: http://www.worldcf.org/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Pfeiffer syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Pfeiffer syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Pfeiffer syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome. Accessed 7/25/2014.
Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. June 7, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1455/.
Robin NH. Pfeiffer syndrome. NORD. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/502/viewAbstract. Accessed 7/25/2014.

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