Pfeiffer Syndrome

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Health Conditions and Concerns

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Related websites

Pfeiffer Syndrome - Children's Hospital of Philadelphia

pfeiffer syndrome is a genetic disorder that causes abnormal skull, face and limb development. Learn about the types, characteristics, complications and treatment options for this rare condition at CHOP.

Chop.edu


Pfeiffer Syndrome - Symptoms, Causes, Treatment | NORD

Jul 25, 2023 · pfeiffer syndrome is a rare genetic disorder that causes craniosynostosis, hand and foot abnormalities, and hearing loss. It has three forms, types I, II and III, with …

Rarediseases.org


Pfeiffer Syndrome - StatPearls - NCBI Bookshelf

Jul 4, 2023 · pfeiffer syndrome is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great toes, and soft tissue syndactyly of the hands and feet. This activity …

Ncbi.nlm.nih.gov


Pfeiffer syndrome - MedlinePlus

pfeiffer syndrome is a genetic disorder that affects the skull, face, hands, and feet. Learn about the causes, inheritance, subtypes, and resources for this condition from MedlinePlus Genetics.

Medlineplus.gov


Pfeiffer syndrome: Symptoms, causes, and outlook

Jul 14, 2023 · pfeiffer syndrome is a rare genetic disorder that causes the skull to fuse prematurely, affecting the face, hands, and feet. Learn about the three subtypes, diagnosis, treatment, and prognosis of this condition.

Medicalnewstoday.com


Pfeiffer Syndrome - Boston Children's Hospital

Learn about pfeiffer syndrome, a rare genetic disorder that affects the skull, face, hands, and feet. Find out the types, symptoms, causes, diagnosis, and treatments of this condition at …

Childrenshospital.org


Pfeiffer syndrome - Great Ormond Street Hospital

pfeiffer syndrome is a genetic condition that affects the skull, face, hands and feet. Learn about the types, diagnosis and management of this complex craniosynostosis from Great Ormond Street Hospital.

Gosh.nhs.uk


Pfeiffer syndrome | About the Disease | GARD - Genetic and Rare

pfeiffer syndrome is a condition that affects the skull, hands and feet. It is caused by mutations in FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. Learn about the …

Rarediseases.info.nih.gov


What Is Pfeiffer Syndrome? - Verywell Health

Jan 28, 2023 · pfeiffer syndrome is a rare genetic disorder that affects the skull, face, hands, and feet. Learn about the three types, how they differ, and what treatments are available.

Verywellhealth.com


What Is Pfeiffer Syndrome? Can My Baby Be Treated? - WebMD

Mar 22, 2024 · pfeiffer syndrome is a rare genetic condition that affects the shape of a baby’s skull and face. Learn about the types, causes, symptoms, diagnosis, and treatment options …

Webmd.com


Entry - #101600 - PFEIFFER SYNDROME - OMIM

May 24, 2006 · pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important …

Omim.org


Pfeiffer Syndrome: Types, Causes, Treatment, Symptoms

pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and other birth defects in the hands and feet. The abnormality …

Medicinenet.com


Pfeiffer Syndrome - Osmosis

Mar 30, 2023 · pfeiffer syndrome is a genetic disorder that affects the growth and development of the skull, hands, and feet. Learn about the types, signs, complications, and …

Osmosis.org


Pfeiffer Syndrome: Symptoms, Causes, Treatment - Health

Sep 10, 2023 · pfeiffer syndrome is a rare genetic disorder affecting one in 100,000 people that causes skeletal deformities. People with mild symptoms typically have average lifespans. …

Health.com


Pfeiffer syndrome - Orphanet Journal of Rare Diseases

Jun 1, 2006 · pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands …

Ojrd.biomedcentral.com


Pfeiffer syndrome - PMC - National Center for Biotechnology …

Jun 1, 2006 · pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands …

Ncbi.nlm.nih.gov


Pfeiffer Syndrome - PubMed

Jul 4, 2023 · pfeiffer syndrome (PS, OMIM #101600) is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great toes, …

Pubmed.ncbi.nlm.nih.gov


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