Increased NT

Genetic syndromes reported in fetuses with increased nuchal translucency thickness

Press on the individual button for basic details on prevalence, inheritance, prognosis and common features. The ones with a star (*) are amenable to prenatal diagnosis by DNA analysis.

Achondrogenesis	Fowler syndrome	Osteogenesis imperfecta type II*
Achondroplasia*	Fryn syndrome	Perlman syndrome
Adrenal hyperplasia*	GM1-Gangliosidosis*	Roberts syndrome
Asphyxiating thoracic dystrophy	Hydrolethalus syndrome	Robinow syndrome
Beckwith–Wiedemann syndrome	Hypochondroplasia	Short-rib polydactyly syndrome
Blackfan-Diamond anemia	Hypophosphatasia	Smith–Lemli–Opitz syndrome*
Blomstrand osteochondrodysplasia	Infantile polycystic kidney disease	Spinal muscular atrophy type 1*
Campomelic dysplasia	Jarcho–Levin syndrome	Stickler syndrome
CHARGE association	Joubert syndrome	Thalassaemia-a*
Cleidocranial dysplasia	Long chain HAD deficiency*	Thanatophoric dysplasia*
Cornelia de Lange syndrome	Lymphedema	Treacher Collins syndrome
Di George syndrome*	Meckel–Gruber syndrome	Trigonocephaly ‘C’ syndrome
Dyserythropoietic anemia	Mucopolysaccharidosis type VII*	VACTER association
Ectrodactyly-cleft palate syndrome	Myotonic dystrophy*	Vitamin D resistent rickets
Erythropoietic porphyria	Nance–Sweeney syndrome	Zellweger syndrome*
Fanconi anemia	Nephritic syndrome*
Fetal akinesia deformation sequence	Noonan syndrome*