Table 1 Genetic diseases featured by Müllerian, renal and skeletal malformations: similarities and differences with MRKH syndrome/MURCS association.
MRKH/MURCS | Klippel-Feil | VATER | FAV spectrum | Winter synd. | HRA |
|---|---|---|---|---|---|
OMIM 277000/601076 | OMIM 148860 | OMIM 192350 | OMIM 164210 | OMIM 267400 | OMIM 191830 |
uterus aplasia | uterus aplasia | uterus aplasia | uterus malform. | ||
vaginal aplasia | vag. aplasia atresia (1) | vaginal aplasia | vaginal atresia (1) | vaginal malform. | |
kidney malform. (2) | kidney malform. (2) | kidney malform. (2) | kidney malform. (2) | renal agenesis (3) | renal agenesis (3) |
short neck | short/web neck | ||||
scoliosis | scoliosis | ||||
other vert. defects | other vert. defects | other vert. defects | other vert. defects | ||
rib defects | rib defects | rib defects | |||
thumb hypoplasia | thumb hypoplasia | thumb hypoplasia | |||
radius hypoplasia | |||||
polydactyly | |||||
deafness | deafness | deafness | deafness | ||
malf. ext. ears | malf. ext. ears | malf. ext. ears | |||
low set ears | |||||
facial asymmetry | facial asymmetry | facial asymmetry | |||
malar hypoplasia | |||||
maxilary hypoplas. | |||||
micrognathia | micrognathia | ||||
macrostomia | |||||
strabismus | |||||
microphtalmos | |||||
iris coloboma | |||||
glaucoma | |||||
cleft lip/palate | cleft palate w/o lip | cleft lip/palate | |||
cleft tongue | |||||
single ombilic artery | |||||
anal atresia | |||||
trach-oesoph. fistula | |||||
cardiac defects | cardiac defects | cardiac defects | cardiac defects |