| 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. |
