PHAVER syndrome

MedGen UID:: 376670
•Concept ID:: C1849928
•: Disease or Syndrome

Synonym:	Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects
SNOMED CT:	Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (723453002); PHAVER syndrome (723453002); PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome (723453002); Powell Chandra Saal syndrome (723453002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009859
OMIM®:	261575
Orphanet:	ORPHA2876

Definition

A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance. [from SNOMEDCT_US]