Phenotype, malformations and associated diseases/conditions
In the antenatal period: ultrasound signs
Thick neck, cystic hygroma, hydrops fetalis (anasarca)
Aortic coarctation, left cardiac abnormalities
Renal abnormalities
Brachycephaly
Hydramnios/oligoamnios
Moderate intrauterine growth retardation
Newborn	Child/Adult
Lymphedema, hands/feet	Short stature
Thick neck	Premature ovarian insufficiency
Intrauterine growth retardation
Eyes	Mouth
Orbitopalpebral abnormalities (epicanthal folds, antimongoloid slant, ptosis), strabismus, refractive abnormalities	Micrognathia
	High-arched palate
	Dental abnormalities (agenesis, anomalous enamel structure)
Ears	Neck
Low-set	Low hairline
Malformations	Pterygium colli, short neck
Recurrent bouts of otitis
Deafness
Skeleton	Heart–Aorta–Cardiovascular
Cubitus valgus	Bicuspid aorta
Shortening of the fourth metacarpal bone	Aortic coarctation
	Aortic stenosis
Genu valgum	Aortic insufficiency
Madelung's deformity	Mitral prolapse
Scoliosis, kyphosis	Left heart hypoplasia
Bone maturation delay	Aortic dilation (± aneurysm, ± rupture)HBP
Low bone mineral density
Chest	Liver and GI
Shield-shaped chest	Liver cytolysis
Widely spaced nipples	Celiac disease
Inverted nipples	Inflammatory GI diseases
Endocrine glands	Kidneys–Bladder
Autoimmune thyroiditis	Horseshoe kidney
Carbohydrate intolerance	Malrotation
Type 1 diabetes	Ectopic kidney
Type 2 diabetes	Renal agenesis
	Duplex kidney
	Hypodysplasia
	UTIs
Skin and skin appendages	Neuropsychological aspects
Multiple nevi	Learning difficulties
Lymphedema, hands/feet	Neurocognitive deficits
Vitiligo	Psychological immaturity
Alopecia
Hypoplastic nails