Syndromes Somatic Findings Reproductive
Anomaly
Etiology
Antley-Bixler Craniosynostosis,
choanal atresia,
radiohumerus
synostosis, gracile ribs,
camptodactyly, renal
defects
Vaginal Atresia Autosomal Dominant
FGFR2 mutation
Autosomal Recessive
POR mutation
Apert Craniosynostosis and
midface hypoplasias
with syndactyly of
hands and feet, cardiac
and renal defects
Vaginal Atresia Autosomal Dominant
FGFR2 gene
mutation
Bardet-Biedl Mental retardation,
pigmentary
retinopathy,
polydactyly, obesity,
hypogonadotropic
hypogonadism
Vaginal Atresia Autosomal Recessive
BBS1-14 mutations
del(1)(q12) Growth and mental
retardation, facial
anomalies, neural tube
defects, absence of
corpus callosum
Vaginal Stenosis Chromosomal
Ellis Van Creveld Congenital heart
defects, short limbs,
postaxial polydactyly
Vaginal Atresia Autosomal Recessive
EVC/EVC2
mutations
Fraser Cryptophalamos, nose
and ear anomalies,
laryngeal stenosis,
renal agenesis, mental
retardation
Vaginal Atresia Autosomal Recessive
FRAS1, FREM2,
GRIP1 mutations
McKusick-Kaufman Hydrometrocolpos,
postaxial polydactyly,
cardiac defects,
esophageal atresia,
anal atresia
Vaginal Atresia Autosomal Recessive
MKKS mutations
Pallister Hall Hypothalamic
hamartoblastoma,
panhypopituitarism,
craniofacial defects,
postaxial polydactyly,
renal and cardiac
defects
Vaginal Atresia Autosomal Dominant
GLI3 mutation
Robinow Mesomelic dwarfism,
hypertelorism, cleft lip
and palate, anteverted
nares, hemivertebra,
short digits
Vaginal Atresia Autosomal Dominant
WNT5A mutation
Autosomal Recessive
ROR2 mutation
Listed here are genetic syndromes which may be associated with vaginal atresia. Other phenotypic characteristics of the genetic syndromes, modes of inheritance, and known genetic mutations are presented.
Table 1: Syndromes associated with vaginal atresia.