PHAVER Syndrome is a rare disorder with phenotypic variability.
Inheritance: autosomal recessive
Clinical findings:
(1) limb pterygia (P, congenital webbing)
(2) heart defects (H)
(3) autosomal recessive inheritance (A)
(4) verebral defects (V)
(5) ear anomalies (E)
(6) radial defects (R)
Other findings:
(1) meningomyelocele (or other neural tube defects)
Differential diagnosis:
(1) VATER association
