Syndromes Somatic Findings Uterine anomaly Etiology Acro-renal mandibular Limb deficiencies, diaphragmatic hernia, ectrodactyly of hand and foot, absence of radius and metacarpal V, kidney dysplasia Uterus didelphys Autosomal recessive Apert Apert Craniosynostosis and midface hypoplasias with syndactyly of hands and feet, cardiac and renal defects Bicornuate uterus Autosomal Dominant FGFR2 gene mutation Bardet-Biedl Mental retardation, Pigmentary retinopathy, polydactyly, obesity, hypogonadotropic hypogonadism “Uterus duplex, vaginal septa” Autosomal recessive BBS1-14 mutations Beckwith-Wiedemann Omphalocele, macroglossia, overgrowth, clitoral enlargement IMF Imprinting abnormality, hypo-, hypermethylation of 11p15.5 Caudal duplication Duplication of sacrum, lumbar vertebrae, anus, large bowel, external genitalia Duplication of uterus and cervix Unknown Caudal regression Agenesis of sacral and lumbar regions Duplication of uterus and cervix Unknown Cloacal exstrophy Common urogenital sinus and rectum, renal anomalies, vertebral defects IMF Unknown de Lange Growth retardation, microcephaly, mental retardation, synophrys, limb anomalies IMF Mutations in NIPBL, SMC1A, SMC3 Donohue Elfin facies, enlarged ears, low-set ears, prominent breasts, abnormal carbohydrate metabolism, insulin receptor defect IMF Autosomal Recessive Insulin Receptor gene mutations Female pseudohermaphroditism with renal and gastrointestinal anomalies Genital ambiguity, urologic and gastrointestinal anomalies, vertebral and radial anomalies, renal absence Uterine Didelphys Unknown Fraser Cryptophthalmos, nose and ear anomalies, laryngeal stenosis, renal agenesis, mental retardation Bicornuate uterus Autosomal recessive FRAS1, FREM2, GRIP1 mutations Fryns Coarse facies, cleft palate, pulmonary hypoplasias, diaphragmatic defects Bicornuate uterus Autosomal recessive No gene identified yet Halal Digital hypoplasias, upper limb shortening, ectrodactyly Uterine didelphys with Autosomal Dominant Unknown gene Hydrolethalus Hydrocephaly, neural tube defects, micrognathia, deep set eyes, cleft palate, malformed respiratory tract, cardiac anomalies, club feet, polydactyly “Uterus duplex” Autosomal recessive KIF7 and HYLS1 mutations Jarcho-Levin Spondylocostal dysostosis: hemivertabrae, vertebral absences and fusion, respiratory defects, cardiac defects, short neck and chest, hernias Uterine didelphys Autosomal recessive MESP2 mutations Meckel Encephalocele, postaxial polydactyly, dysplastic polycystic kidneys, male pseudohermaphroditism Bicornuate uterus Autosomal recessive MSK1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A mutations Popliteal Pterygium Pterygium of popliteal, antecubital, and crural regions, cleft lip and palate, digital hypoplasia IMF Autosomal Dominant IRF6 mutations Autosomal Recessive RIPK4 Roberts Tetraphocomelia, craniofacial abnormalities, corneal clouding, cardiac and renal anomalies Bicornuate uterus Autosomal recessive ESCO2 mutations Rüdiger Mental retardation, coarse facies, bifid uvula, ureteral stenosis, thickened palms and soles, inguinal hernias, poor cartilaginous formation Bicornuate uterus Autosomal recessive Unknown gene Thalidomide embryopathy Tetraphocomelia, especially radius, tibia, femur, midline facial hemangioma, nerve palsies, and cardiac defects Septate uterus and vagina Teratogen Urogenital adysplasia Unilateral or bilateral renal agenesis, flattened facies, pulmonary hypoplasias, limb deformations Unicornuate or Bicornuate uterus Unknown: multifactorial, epigenetic inheritance Listed here are genetic syndromes that may be associated with incomplete Müllerian fusion (IMF). Other phenotypic characteristics of the genetic syndromes, modes of inheritance, and known genetic mutations are presented.

Table 2: Syndromes associated with incomplete müllerian fusion (IMF).