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APPENDIX 2

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  • 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 ...

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