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Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death. History
Cardiocranial syndrome, Pfeiffer type. Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. [1] [2] [3] [4]
Acrocephalosyndactyly type IV was formerly called Mohr Syndrome, however, it was later classified under Orofaciodigital syndrome type II. Pfeiffer syndrome was formerly type VI and Waardenburg type V, but this was changed sometime after 1966. Acrocephalosyndactyly (ACS):
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
Cardiocranial syndrome, Pfeiffer type: Sagittal Carpenter syndrome: Coronal, sagittal Brachycephaly, oxycephaly, trigonocephaly Also classified as Acrocephalopolysyndactyly type II. CEBALID syndrome Brachycephaly, dolichocephaly, plagiocephaly, platystencephaly, turricephaly Cerebrooculonasal syndrome Brachycephaly Macrocephaly
Pfeiffer syndrome; Cancer. Breast cancer, a mutation or single nucleotide polymorphism (SNP) in intron 2 of the FGFR2 gene is associated with a higher breast cancer risk; however the risk is only mildly increased from about 10% lifetime breast cancer risk in the average woman in the industrialized world, to 12-14% risk in carriers of the SNP.
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
Familial hypercholesterolemia ( FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases. The most common mutations diminish the number of functional LDL receptors in the liver or produce abnormal LDL ...