MURCS association
MIM.601076
MURCS is an acronym for the association of Mullerian duct aplasia, Unilateral Renal agenesis and Cervicothoracic Somite dysplasia. Cases are sporadic.
Synopsis
short stature (adult height <152cm)
facial asymmetry
micrognathia
conductive hearing loss
external ear defects
cleft lip and/or cleft palate
rib anomalies
Sprengel deformity
genital anomalies
- azoospermia
- bicornuate uterus
- unicornuate uterus
- mullerian duct aplasia
- absent-hypoplastic uterus
- absent proximal 2/3 of vagina
renal anomalies
- renal agenesis (renal aplasia)
- ectopic kidneys
cervicothoracic somite dysplasia (vertebral anomalies)
- cervicothoracic vertebral defects (especially C5-T1)
Klippel-Feil anomaly
upper limb malformations
cerebellar cysts
thenar muscle hypoplasia (thenar hypoplasia) (17786122)
radial ray anomalies
Differential diagnosis
overlap between the MURCS association and VATER association (vertebral, anal, tracheo-esophageal, radial)
See also
mesodermal morphogenesis
References
Tan TY, Whitelaw C, Savarirayan R. A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? Clin Dysmorphol. 2007 Oct;16(4):271-3. PMID: 17786121
Greene RA, Bloch MJ, Huff DS, Iozzo RV. MURCS association with additional congenital anomalies. Hum Pathol. 1986 Jan;17(1):88-91. PMID: 3510965