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

Frequency of malformations is indicated as follow: very frequent occasional rarely observed (1): vaginal atresia affects the lower part of the vagina and is far different from vaginal aplasia found in MRKH/MURCS and which affects the upper (~2/3) part of the vagina. (2): kidney malformations include unilateral agenesis, ectopia of one or both kidneys, horseshoe kidney. Bilateral agenesis can be found post mortem. (3): unilateral or bilateral renal agenesis.
Guerrier et al. Journal of Negative Results in BioMedicine 2006 5:1 doi:10.1186/1477-5751-5-1