PHAVER syndrome

Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.

Pterygium

Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.


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PMID (PMCID)
8279476
 MIXED_SAMPLE Infant, Newborn
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
Powell CM, Chandra RS, Saal HM.
Am J Med Genet. 1993;47(6):807-11.
We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
8279476
 MIXED_SAMPLE Infant, Newborn
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
Powell CM, Chandra RS, Saal HM.
Am J Med Genet. 1993;47(6):807-11.
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.