Pfeiffer syndrome Learn about the types, features, complications, and treatment options at CHOP's Craniofacial Program. Having fused skull bones may Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Pfeiffer syndrome is a rare genetic form of craniosynostosis — the early closing of one or more of the soft, fibrous seams (sutures) between the skull bones. This prevents the skull from growing normally, affecting the shape of the head and face and sometimes causing increased pressure around the brain. Jul 14, 2023 · Pfeiffer syndrome is a genetic condition that is present from birth. Pfeiffer syndrome is a complex genetic disorder in which certain bones in the skull fuse (join together) early in their development. Pfeiffer is pronounced FY-fer. Apr 26, 2018 · Pfeiffer syndrome happens when the bones in your child’s skull, hands, and feet have fused together too soon in the womb because of a gene mutation. Learn about the types, diagnosis, complications and treatment options for this condition. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. A mutation typically causes it in the FGFR1 and FGFR2 genes, which affect how specific cells in the body grow, divide, and die. In this condition, various complications result from premature skull fusion. This early fusion prevents the skull from growing normally and affects the shape of the head and face. . Mar 4, 2025 · Pfeiffer syndrome is a rare genetic disorder characterized by complex craniosynostosis, broad thumbs and big toes, and skeletal defects affecting the hands and feet. This can cause physical, mental, and internal Pfeiffer syndrome is a disorder that affects the development of the bones in the skull, hands and feet. What is Pfeiffer Syndrome? Pfeiffer Syndrome (first reported in 1964) is a condition resulting from premature fusion of the sutures of the skull and deformity of the skull. [1] Most of the affected patients have associated conductive hearing loss. , 1972). Jul 25, 2023 · Pfeiffer syndrome type I is associated with variants in FGFR1 and FGFR2. Pfeiffer syndrome is an autosomal dominant genetic disorder. Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). 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. Learn more about the causes, symptoms, and treatment options, including surgery. It's a type of syndromic craniosynostosis where the bones of the skull and skull base grow together too soon. Pfeiffer syndrome (PS, OMIM #101600) is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great toes, and soft tissue syndactyly of hands (usually second and third digits) and feet of varying severity. Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. Normally, the skull grows evenly at many fibrous joints (soft spots) as a child’s brain grows. Pfeiffer syndrome type II and type III are associated with variants in FGFR2. Pfeiffer syndrome is a rare genetic condition involving premature fusion of bones in the skull (craniosynostosis). Jul 12, 2023 · Pfeiffer syndrome is a rare genetic condition that causes skull and limb deformities in children. Jun 3, 2025 · Also known as: Acrocephalosyndactyly–Pfeiffer–type What is Pfeiffer syndrome? Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull (craniosynostosis). The syndrome affects how your baby’s head, face, hands and feet look and work. Pfeiffer syndrome is a genetic disorder that causes abnormal skull, face, and limb development. Symptoms include bulging eyes, an unusually shaped What Is Pfeiffer Syndrome? Pfeiffer syndrome is a rare genetic condition affecting only about 1 in 100,000 newborns. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. Mar 22, 2024 · Pfeiffer syndrome is a rare condition where a baby’s skull plates join together earlier than usual. Cohen (1993) stated that 7 Pfeiffer syndrome pedigrees (three 3-generation and four 2-generation) had been reported, in addition to at least a dozen sporadic cases. 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, and soft tissue syndactyly of hands (usually second and third digits) and feet of varying severity. Hydrocephaly may be found occasionally, along with severe ocular May 24, 2006 · Pfeiffer syndrome is an autosomal dominant disorder (Pfeiffer, 1964; Saldino et al. imfpcugujtugeaonjtuymjakvvuljdpdyvzdsbfkskhxeybeph