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.

Table 3: Syndromes associated with müllerian aplasia.