Head And Neck Eyes:
hypertelorism
ptosis
optic nerve hypoplasia
retinal dysplasia
long eyelashes
microcornea
ectropion of lower eyelids
optic nerve dysplasia
epicanthal folds
cloudy cornea
retinal hypoplasia
anterior segment dysgenesis
microphthalmia, unilateral or bilateral
cataract, bilateral
congenital aphakia, bilateral
peters anomaly, unilateral
glaucoma, bilateral congenital
iris coloboma, unilateral or bilateral
chorioretinal coloboma, bilateral
uveal coloboma, from iris to optic disc
optic nerve coloboma, bilateral
optic tract hypoplasia
optic chiasm hypoplasia
more
Head And Neck Neck:
short neck
webbed neck
cystic hygroma
excess nuchal skin
Growth Other:
failure to thrive
Skeletal Pelvis:
hip dysplasia
coxa valga
hip dislocation
Growth Height:
short stature
Genitourinary Internal Genitalia Male:
cryptorchidism
Head And Neck Face:
smooth philtrum
prominent forehead
Cardiovascular Vascular:
patent ductus arteriosus
persistent left superior vena cava
dilated aortic root
dilated aorta
dilated main pulmonary artery
dilated right and left branches of pulmonary artery
more
Head And Neck Nose:
prominent nasal bridge
broad nasal bridge
Genitourinary External Genitalia Male:
micropenis
Laboratory Abnormalities:
hypocalcemia
hyperinsulinism
direct hyperbilirubinemia
postprandial reactive hypoglycemia
transient neonatal hypoparathyroidism
Genitourinary Ureters:
ureterocele
bifid ureter
dilated ureters
duplicated collecting system, unilateral
Skeletal Feet:
syndactyly
overlapping toes
bilateral talipes
Head And Neck Head:
microcephaly, postnatal
Respiratory:
respiratory distress at birth
Prenatal Manifestations Amniotic Fluid:
oligohydramnios in late pregnancy
Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
dysplastic helices
simplified ears
Neurologic Central Nervous System:
intellectual disability
absent speech
cerebellar vermis hypoplasia
polymicrogyria
delayed myelination
enlarged cisterna magna
cerebellar hemisphere hypoplasia
simplified gyral pattern
developmental delay
hypotonia
enlarged fourth ventricle
hypoplastic or absent corpus callosum
small brainstem
pontine hypoplasia
hippocampal hypoplasia
enlarged posterior fossa
broad gyri
shallow sulci
thin anterior commissure
spastic quadriplegia (uncommon)
seizures, neonatal onset
limited to no ambulation
neuroregression, significant (rare)
diffuse white matter hyperintensity seen on mri
reduction in white matter volume
hippocampal dysplasia
ventriculomegaly, mild
corpus callosum dysgenesis
absent posterior cingulate gyrus
abnormal configuration of basal ganglia
pericallosal lipoma
cerebellar vermis dysplasia
foliar dysplasia
large massa intermedia
prominent midbrain tectum
grey matter heterotopias in right frontal lobe (uncommon)
more
Skeletal Spine:
scoliosis
Chest External Features:
pectus carinatum
inverted nipples
widely spaced nipples
Abdomen Gastrointestinal:
feeding difficulties
intestinal malrotation
Cardiovascular Heart:
ventricular septal defect
atrial septal defect
tricuspid regurgitation
persistent foramen ovale
tricuspid valve thickening
bicuspid pulmonic valve
cardiomegaly dilated atria, mild
more
Skin Nails Hair Skin:
sacral dimple
abnormal palmar creases
Skeletal:
joint laxity
contractures
Head And Neck Mouth:
wide mouth
thin upper lip vermilion
downturned mouth
Genitourinary Kidneys:
hydronephrosis
Prenatal Manifestations:
fetal distress
Skeletal Hands:
syndactyly
tapered fingers
clinodactyly of fifth fingers
contractures of interphalangeal joints
contractures of metacarpophalangeal joints
Prenatal Manifestations Placenta And Umbilical Cord:
short umbilical cord
two-vessel umbilical cord
Genitourinary Internal Genitalia Female:
hypoplastic uterus
thin, fibrotic ovaries
Endocrine Features:
delayed or incomplete puberty
