Table 3.

Syndromes associated with müllerian aplasia.

Syndromes	Somatic Findings	Uterine Anomaly	Etiology
Deletion 4p (Wolf-Hirschhorn syndrome)	Microcephaly, mental retardation, growth retardation, cardiac anomalies	Absent uterus	Chromosomal [del (4)(p16.3]
Oculoauriculovertebral spectrum (Goldenhar syndrome)	Hypoplastic malar, maxillary and mandibular regions, microtia, hemivertebrae or hypoplastic vertebrae	“Rokitansky sequence”	Unknown: multifactorial, epigenetic inheritance, environmental disruption
Female pseudohermaphroditism, renal and gastrointestinal anomalies	Genital ambiguity, urologic and gastrointestinal anomalies, vertebral and radial anomalies, renal absence	Absence of uterus	Unknown
Al-Awadi/Raas-Rothschild	Absence or reduction of limbs, facial abnormalities, pelvic and genital abnormalities	Müllerian aplasia	Autosomal recessive WNT7A Mutation
Müllerian aplasia, Klippel-Feil anomaly	Short neck, low hairline, restricted mobility of upper spine, middle ear anomalies	Müllerian aplasia	Unknown
MURCS association	Müllerian aplasia, renal aplasia, cervicothoracic somite dysplasia	Müllerian aplasia	Unknown
Roberts	Tetraphocomelia, craniofacial abnormalities, corneal clouding, cardiac and renal anomalies	Agenesis of uterus and agenesis or atresia of vagina	Autosomal recessive ESCO2 Mutation
Thalidomide embryopathy	Tetraphocomelia, midline facial hemangioma, nerve palsies, cardiac defects	Müllerian aplasia	Teratogen
Mosaic trisomy 7	Cystic kidneys, oligohydramnios	Absence of uterus	Chromosomal
Urogenital dysplasia (hereditary renal dysplasia)	Potter facies, Pulmonary hypoplasias, limb deformations, renal dysplasia	Absence of uterus	Unknown: multifactorial, epigenetic inheritance

Listed here are genetic syndromes that may be associated with Müllerian aplasia. Other phenotypic characteristics of the genetic syndromes, modes of inheritance, and known genetic mutations are presented.