SONOGRAPHIC FEATURES OF LESS-COMMON FETAL SYNDROMES/ASSOCIATIONS









  • Aarskog syndrome (X-linked recessive)




    • Hypertelorism



    • Short nose



    • Clinodactyly



    • Brachydactyly




  • Aase syndrome (autosomal dominant)




    • Radial hypoplasia



    • Cleft palate



    • Ventricular septal defect



    • Urogenital anomalies




  • Acrocallosal syndrome (autosomal recessive)




    • Agenesis of corpus callosum



    • Intracranial cysts



    • Hypertelorism



    • Macrocephaly



    • Polydactyly—postaxial




  • Acrofacial dysostosis, Miller syndrome (autosomal recessive)




    • Malformed ears



    • Micrognathia



    • Cleft lip/palate



    • Absent digits, usually the fifth digits



    • Radial hypoplasia




  • Acromesomelic dysplasia (autosomal recessive)




    • Mesomelic (forearm/lower leg) shortness



    • Bowed radius




  • Adams-Oliver syndrome (autosomal dominant)




    • Absent digits



    • Encephalocele



    • Microcephaly



    • Cardiac defects



    • Clubfoot



    • Intrauterine growth restriction




  • Aicardi syndrome (X-linked dominant)




    • Agenesis of corpus callosum



    • Arachnoid cyst



    • Dandy-Walker malformation



    • Ventriculomegaly



    • Microcephaly



    • Microphthalmia




  • Amyloplasia congenita (sporadic)




    • Gastroschisis



    • Micrognathia



    • Clubfoot



    • Joint contractures



    • Decreased fetal movement




  • Atelosteogenesis (autosomal dominant)




    • Small chest



    • Eleven pairs of ribs



    • Hypertelorism



    • Cleft lip and palate



    • Micrognathia



    • Absent humeri



    • Absent fibula



    • Bowed tibia



    • Clubfoot



    • Rhizomelic (proximal) shortening



    • Intrauterine growth restriction



    • Polyhydramnios




  • Baller-Gerold syndrome (autosomal recessive)




    • Malformed kidney



    • Mild ventriculomegaly



    • Hypotelorism



    • Micrognathia



    • Absent digits



    • Abnormal or absent thumb



    • Radial hypoplasia



    • Intrauterine growth restriction



    • Renal abnormalities




  • Basal cell nevus (Gorlin) syndrome (autosomal dominant)




    • Macrocephaly



    • Calcifications in falx cerebri



    • Ventriculomegaly—mild




  • Beals syndrome (autosomal dominant)




    • Joint contractures



    • Cardiac defects




  • Boomerang dysplasia (autosomal dominant)




    • Bowing



    • Severe micromelia



    • Hypertelorism



    • Clubfeet



    • Polyhydramnios




  • Branchio-oto-renal (Melnick-Fraser) syndrome (autosomal dominant)




    • Malformed ears



    • Renal abnormalities




  • CHARGE association (autosomal dominant)




    • Esophageal atresia



    • Cardiac abnormality



    • Anophthalmia



    • Holoprosencephaly



    • Cleft palate



    • Micrognathia



    • Genital hypoplasia




  • Chondrodysplasia punctata (X-linked dominant, X-linked recessive, autosomal recessive)




    • Small chest



    • Joint contractures



    • Rhizomelic shortening



    • Hydrops



    • Stippled epiphyses




  • Chromosome: 18p-




    • Holoprosencephaly



    • Hypotelorism



    • Clubfoot



    • Cardiac abnormalities




  • Chromosome: 18q-




    • Microphthalmia/anophthalmia



    • Microcephaly




  • Chromosome: 47,XXY




    • Increased nuchal translucency




  • Chromosome: 4p- (Wolf-Hirschhorn)




    • Hypertelorism



    • Cardiac abnormality



    • Cleft lip/palate



    • Micrognathia



    • Malformed ears (tags)



    • Intrauterine growth restriction



    • Microcephaly




  • Cleidocranial dysplasia (autosomal dominant)




    • Partial or total aplasia of the clavicles



    • Brachycephaly



    • Hypertelorism




  • Congenital muscular dystrophy (autosomal recessive)




    • Clenched hands



    • Muscle wasting




  • Congenital nephrotic syndrome (autosomal recessive)




    • Polyhydramnios



    • Hydrops



    • Placentomegaly




  • Cornelia de Lange syndrome (autosomal dominant)




    • Cardiac abnormality



    • Dandy-Walker malformation



    • Microcephaly



    • Short nose



    • Midface hypoplasia



    • Abnormal thumb



    • Absent digits



    • Absent limbs



    • Clinodactyly



    • Radial hypoplasia



    • Short limbs



    • Hydrops



    • Intrauterine growth restriction




  • Cri-du-chat (5p deletion) syndrome




    • Microcephaly



    • Micrognathia



    • Cardiac malformation



    • Facial abnormalities, such as cleft lip and palate



    • Hypoplastic cerebellum



    • Increased nuchal translucency



    • Intrauterine growth restriction




  • Diabetic embryopathy




    • Duodenal atresia



    • Malformed kidney



    • Renal agenesis



    • Cardiac abnormality



    • Holoprosencephaly



    • Spinal dysraphism



    • Vertebral defects



    • Cleft lip/palate



    • Macrosomia



    • Polyhydramnios




  • Dyssegmental dysplasia (autosomal recessive)




    • Bowing



    • Severe shortening of all limbs



    • Vertebral abnormalities



    • Cleft palate




  • Ectrodactyly-ectodermal-dysplasia-clefting syndrome (autosomal dominant)




    • Hydronephrosis



    • Cleft lip with or without cleft palate



    • Absent digits



    • Absent limbs



    • Clinodactyly



    • Renal anomalies



    • Holoprosencephaly




  • Ectrodactyly–tibial aplasia syndrome (autosomal dominant)




    • Abnormal thumbs



    • Absent digits



    • Tibial aplasia



    • Bifurcation of femora



    • Ulna hypoplasia




  • Ellis–Van Creveld syndrome (autosomal recessive)




    • Renal agenesis



    • Cardiac abnormalities



    • Small chest



    • Clubfoot



    • Polydactyly—postaxial



    • Dandy Walker malformation



    • Short limbs



    • Intrauterine growth restriction




  • Fanconi syndrome (autosomal recessive)




    • Cardiac abnormality



    • Thumb hypoplasia/aplasia



    • Microcephaly



    • Radial hypoplasia



    • Renal abnormalities



    • Absent cavum septum pellucidum



    • Cardiac defects




  • Fetal infections




    • Echogenic bowel



    • Echogenic brain foci



    • Hepatic calcifications



    • Microcephaly



    • Limb abnormalities (varicella)



    • Mild ventriculomegaly



    • Cataracts



    • Microphthalmia



    • Hydrops



    • Intrauterine growth restriction



    • Thick placenta




  • Fetal methotrexate embryopathy




    • Mesomelic shortness



    • Micrognathia



    • Intrauterine growth restriction



    • Clubfeet



    • Cleft palate



    • Neural tube defects




  • Fetal warfarin syndrome




    • Nasal hypoplasia



    • Rhizomelic shortening



    • Intrauterine growth restriction



    • Stippled epiphyses




  • Fibrochondrogenesis (autosomal dominant and autosomal recessive)




    • Small chest



    • Rhizomelic shortening



    • Cleft palate



    • Hydrops



    • Intrauterine growth restriction



    • Omphalocele




  • Fraser syndrome (autosomal recessive)




    • Microphthalmia or anophthalmia



    • Syndactyly



    • Genital abnormalities



    • Laryngeal atresia



    • Malformations of the nose and ear



    • Renal agenesis




  • Freeman-Sheldon syndrome (autosomal dominant)




    • Micrognathia



    • Ulnar deviation of hands



    • Clenched hands



    • Clubfoot



    • Joint contractures



    • Microcephaly




  • Frontonasal dysplasia sequence (autosomal recessive in some forms)




    • Frontal bone defect



    • Median cleft lip



    • Hypertelorism




  • Grebe syndrome (autosomal recessive)




    • Acromesomelia



    • Absent limbs



    • Polydactyly—preaxial




  • Greig cephalopolysyndactyly syndrome (autosomal dominant)




    • Macrocephaly



    • Hypertelorism



    • Abnormal thumb



    • Hands: polydactyly—postaxial



    • Feet: polydactyly—preaxial



    • Absence of the corpus callosum



    • Ventriculomegaly




  • Harlequin icthyosis (autosomal recessive)




    • Open mouth with large tongue



    • Clenched or fixed hands



    • Limbs in fixed positions




  • Holt-Oram syndrome (autosomal dominant)




    • Cardiac abnormality



    • Abnormal thumb



    • Absent digits



    • Absent limbs



    • Clinodactyly



    • Radial hypoplasia




  • Hydrolethalus (autosomal recessive)




    • Agenesis of the corpus callosum



    • Microphthalmia or anophthalmia



    • Polydactyly—postaxial



    • Ventriculomegaly



    • Polyhydramnios



    • Micrognathia



    • Cleft palate



    • Heart defect



    • Clubfoot




  • Hypophosphatasia (autosomal recessive)




    • Small chest



    • Easily visualized brain structures



    • Bowed limbs



    • Moderate-to-severe bone shortening



    • Diffuse hypomineralization



    • Polyhydramnios




  • Ivemark syndrome (usually sporadic)




    • Situs inversus



    • Complex heart defect



    • Polysplenia



    • Renal abnormalities




  • Jackson-Weiss syndrome (autosomal dominant)




    • Exophthalmos/proptosis/prominent eyes



    • Facial asymmetry




  • Jacobsen syndrome (sporadic unless a parent has a balanced translocation)




    • Trigonocephaly



    • Microcephaly



    • Hypertelorism



    • Micrognathia



    • Cardiac defects




  • Jarcho-Levin syndrome, spondylocostal dysostosis (autosomal recessive)




    • Malaligned and malformed vertebra



    • Fan-shaped ribs



    • Severe shortening of the spine




  • Joubert syndrome (autosomal recessive)




    • Cerebellar hypoplasia



    • Dandy-Walker malformation



    • Renal abnormalities



    • Micrognathia



    • Polydactyly




  • Klippel-Feil sequence (sporadic)




    • Vertebral defects



    • Congenital heart defects



    • Cleft palate




  • Kniest syndrome (autosomal dominant)




    • Short limbs



    • Kyphoscoliosis



    • Platyspondyly



    • Hypoplastic pelvic bones



    • Cleft palate




  • Larsen syndrome (autosomal dominant and recessive)




    • Clubfoot



    • Abnormal vertebral segmentation with kyphoscoliosis



    • Hypertelorism



    • Micrognathia



    • Joint dislocation



    • Cleft palate (autosomal dominant form)




  • Lenz syndrome (X-linked recessive)




    • Microcephaly



    • Renal aplasia/hypoplasia



    • Microphthalmia




  • Marden-Walker syndrome (autosomal recessive)




    • Microcephaly



    • Micrognathia



    • Cleft palate



    • Clubfeet



    • Joint contractures



    • Renal cysts



    • Intrauterine growth restriction




  • Maternal phenylketonuria




    • Cardiac abnormality



    • Microcephaly



    • Intrauterine growth restriction




  • McKusick-Kaufman syndrome (autosomal recessive)




    • Hydronephrosis



    • Cardiac abnormality



    • Polydactyly—postaxial



    • Hydrometrocolpos (midline lower abdominal mass containing echogenic debris that is due to vaginal atresia/stenosis)



    • Other genitourinary anomalies



    • Anorectal atresia




  • Megacystis megaureter (sporadic)




    • Hydronephrosis



    • Large thick-walled bladder



    • Dilated ureters



    • Mostly male




  • Megacystis microcolon intestinal hypoperistalsis syndrome (possibly autosomal recessive)




    • Large bladder without wall thickening



    • Polyhydramnios



    • Dilated small bowel



    • Mostly female




  • Melnick-Needles syndrome (X-linked dominant)




    • Exophthalmos



    • Micrognathia



    • Bowing of humerus, radius, ulna, tibia



    • Small chest




  • Miller-Dieker syndrome (17p13.3 deletion may be de novo or inherited from a parent with a balanced translocation)




    • Micrognathia



    • Clinodactyly



    • Absent parieto-occipital fissure



    • Abnormal sylvian fissure



    • Lissencephaly-only complete agyria can be diagnosed in utero (should not be considered until after 20 weeks’ gestation)



    • Ventriculomegaly



    • Microcephaly



    • Intrauterine growth restriction



    • Polyhydramnios



    • Absence of the corpus callosum




  • MURCS (müllerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia) association (sporadic)




    • Upper spine vertebral deformities



    • Absence or hypoplasia of uterus



    • Enlarged fetal bladder



    • Renal agenesis/ectopy



    • Cystic umbilical cord due to patent urachus



    • Oligohydramnios



    • Female fetus




  • Nager acrofacial dysostosis (autosomal dominant)




    • Micrognathia



    • Cleft palate



    • Deformed ears



    • Absent or hypoplastic thumb




  • Neu-Laxova syndrome (autosomal recessive)




    • Intrauterine growth restriction



    • Agenesis of the corpus callosum



    • Cerebellar hypoplasia



    • Lissencephaly



    • Microcephaly with sloping forehead



    • Cataract



    • Exophthalmos/proptosis/prominent eyes with hypertelorism



    • Extreme puffiness of hands and feet



    • Clenched hands



    • Joint contractures



    • Rocker-bottom feet



    • Micrognathia with flat nose



    • Malformed ears



    • Congenial heart disease




  • Noonan syndrome (autosomal dominant)




    • Cardiac abnormality—pulmonary stenosis



    • Other cardiac defects



    • Cystic hygroma



    • Hypertelorism



    • Hemivertebrae




  • Oculodentodigital syndrome (autosomal dominant)




    • Microphthalmia or anophthalmia



    • Aplasia of one or more fingers or toes




  • Opitz G/BBB syndrome (autosomal dominant, X-linked recessive)




    • Hypertelorism



    • Hypospadias



    • Cleft lip with or without cleft palate



    • Micrognathia



    • Tracheoesophageal fistula



    • Genital abnormality




  • Oral-facial-digital syndrome type I (X-linked dominant)




    • Renal cystic disease



    • Median cleft lip and palate



    • Abnormal digits



    • Clinodactyly



    • Polydactyly—preaxial of feet




  • Oromandibular limb hypogenesis spectrum (sporadic)




    • Absent digits



    • Absent limbs



    • Micrognathia



    • Cleft palate



    • Syndactyly




  • Otocephaly (likely sporadic)




    • Hypoplasia or absence of the mandible and tongue



    • Agnathia



    • Cleft palate



    • Polyhydramnios




  • Otopalatodigital syndrome (X-linked with intermediate expression in females)




    • Hypertelorism



    • Cleft palate



    • Small thorax



    • Bowed tibia




  • Pallister-Hall syndrome (autosomal dominant)




    • Intracranial tumor—hypothalamic hamartoblastoma



    • Polydactyly—postaxial



    • Imperforate anus




  • Poland sequence (sporadic)




    • Absent digits



    • Absent or hypoplastic upper limb



    • Syndactyly




  • Proteus syndrome (sporadic)




    • Macrodactyly



    • Soft tissue masses



    • Variable-size limbs



    • Macrocephaly



    • Nephromegaly




  • Retinoic acid embryopathy




    • Cardiac abnormalities



    • Cerebellar hypoplasia



    • Microcephaly



    • Ventriculomegaly



    • Microtia



    • Micrognathia



    • Hypertelorism




  • Roberts syndrome (autosomal recessive)




    • Hypomelia, more severe in upper extremities



    • Phocomelia



    • Absent digits



    • Absent limbs



    • Cleft lip with or without cleft palate



    • Hypertelorism



    • Cardiac abnormality



    • Encephalocele



    • Cataract



    • Clinodactyly



    • Severe intrauterine growth restriction



    • Genitourinary anomaly




  • Robinow syndrome (autosomal recessive and autosomal dominant)




    • Hypertelorism



    • Cleft lip with or without cleft palate



    • Micrognathia



    • Midface hypoplasia



    • Macrocephaly



    • Hemivertebrae



    • Fused/missing ribs



    • Genital abnormalities



    • Shortened long bones



    • Cardiac defects




  • Rubinstein-Taybi syndrome (sporadic)




    • Broad thumbs with radial angulation



    • Microcephaly



    • Renal abnormalities



    • Cardiac defects




  • Russell-Silver syndrome (sporadic)




    • Asymmetrical intrauterine growth restriction with normal-size head



    • Asymmetric short long bones



    • Micrognathia



    • Clinodactyly




  • Saethre-Chotzen syndrome (autosomal dominant)




    • Exophthalmos/proptosis/prominent eyes



    • Hypertelorism



    • Facial asymmetry



    • Craniosynostosis



    • Frontal bossing



    • Small ears



    • Syndactyly



    • Broad/duplicated large toe




  • Seckel syndrome (autosomal recessive)




    • Microcephaly



    • Micrognathia



    • Clinodactyly



    • Intrauterine growth restriction




  • Simpson-Golabi-Behnel syndrome (X-linked recessive)




    • Macrosomia



    • Polyhydramnios



    • Macrocephaly



    • Macroglossia



    • Polydactyly—postaxial




  • Sotos syndrome (autosomal dominant)




    • Dolichocephaly



    • Macrocephaly



    • Frontal bossing



    • Macrosomia



    • Ventriculomegaly



    • Absence of the corpus callosum




  • Spondyloepiphyseal dysplasia congenita (autosomal dominant)




    • Small chest



    • Cleft palate



    • Short limbs



    • Short spine with vertebral abnormalities



    • Kyphoscoliosis



    • Platyspondyly



    • Clubfeet



    • Intrauterine growth restriction




  • Stickler syndrome (autosomal dominant)




    • Cleft palate



    • Micrognathia



    • Cataracts



    • Scoliosis



    • Clubfoot




  • Thalidomide embryopathy




    • Absent limbs



    • Phocomelia



    • Cardiac defects



    • Microtia



    • Renal abnormalities



    • Gastrointestinal atresias




  • α-Thalassemia




    • Hydrops




  • Thrombocytopenia—absent radius (TAR) syndrome (autosomal recessive)




    • Absent radius bilaterally



    • Ulnar abnormalities



    • Cardiac abnormality



    • Absent limbs



    • Clubfoot



    • Renal abnormalities




  • Townes-Brock syndrome (autosomal dominant)




    • Facial asymmetry



    • Malformed ears



    • Abnormal thumb



    • Absent digits



    • Polydactyly—preaxial



    • Renal agenesis



    • Multicystic dysplastic kidneys



    • Duodenal atresia




  • Walker-Warburg syndrome (autosomal recessive)




    • Agenesis of the corpus callosum



    • Absent cavum septum pellucidum



    • Dandy-Walker malformation



    • Encephalocele



    • Lissencephaly



    • Mild ventriculomegaly



    • Cataracts



    • Microphthalmia or anophthalmia




  • Weaver syndrome (autosomal dominant)




    • Macrosomia



    • Micrognathia



    • Camptodactyly



    • Clubfoot



    • Cardiac defects




  • Williams syndrome (usually sporadic but transmitted from parent to child)




    • Cardiac defects—supravalvular aortic stenosis



    • Other cardiac defects



    • Renal abnormalities



    • Mild intrauterine growth restriction




  • Zellweger syndrome (autosomal recessive)




    • Renal cystic disease



    • Cataracts



    • Clubfoot



    • Joint contractures



    • Agenesis of the corpus callosum



    • Cardiac defects-septal defects



    • Decreased fetal movement



    • Stippled epiphyses



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Jan 12, 2019 | Posted by in ULTRASONOGRAPHY | Comments Off on SONOGRAPHIC FEATURES OF LESS-COMMON FETAL SYNDROMES/ASSOCIATIONS

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