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.