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

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