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Related to Pfeiffer syndrome: Crouzon syndrome, Saethre-Chotzen syndrome, Pfeiffer disease
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On the way home, we read some leaflets about Pfeiffer Syndrome and read that life expectancy can be as little as two years.
But one week after his birth, the baby died from a rare skull disease called Pfeiffer syndrome.
There were two cases of trisomy 13 and one case of Pfeiffer syndrome (craniosynostosis).
Callum has Pfeiffer Syndrome, a condition which only affects about one in every 100,000 babies and causes bones in the skull to fuse too quickly.
Faust et al were among the first to describe a case of long-segment NCTR that was associated with Pfeiffer syndrome.
The PCR was performed by amplifying 50-100 ng of genomic DNA in a Human genes: FGFR2, fibroblast growth factor receptor 2 (bacteriaexpressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome); FGFR3, fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism); TWISTI, twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila); MSX2, rush homeobox 2; EFNBI, ephrin-B1; ALPL, alkaline phosphatase, liver/bone/kidney.
Izzy was born with Pfeiffer Syndrome, a genetic condition affecting one in 100,000 children.