Johanson-Blizzard syndrome
Shwachman-Diamond syndrome
Cockayne syndrome
Schinzel-Giedion syndrome
scaphocephaly
Beckwith-Wiedemann syndrome
holoprosencephaly
Weaver syndrome
Carpenter syndrome
Noonan syndrome
Wolf-Hirschhorn syndrome
cystic fibrosis
microcephaly
Landau-Kleffner syndrome
fibrocystic disease of the pancreas
Treacher Collins syndrome
CF
phocomelia
mucoviscidosis
pancreatic fibrosis
macrencephaly
dysmorphology
Miller-Dieker syndrome
acephalism
Pierre Robin sequence
Baller-Gerold syndrome
acquired disorder
Larsen syndrome
CHARGE syndrome
Bonnet-Dechaume-Blanc syndrome
pancreatomegaly
micropolygyria
pancreatopathy
acephalopodia
Cornelia de Lange syndrome
acephalocheiria
hypogenesis
panzootics
Nager acrofacial dysostosis
Seckel syndrome
Hallermann-Streiff syndrome
teratogenesis
plagiocephaly
pervasive developmental disorder
oxycephaly
brachycephaly
acrocephaly
nanism
acheiropody
tetra-amelia
teratism
cartilage-hair hypoplasia
Duane syndrome
acephalostomia
tuberous sclerosis
pachygyria
Pfeiffer syndrome
pituicytoma
Keutel syndrome
cryptophthalmos
aniridia
macroencephaly
faciodigitogenital dysplasia
cebocephaly
Marinesco-Sjögren syndrome
mannikin
manikin
homunculus
schizencephaly
collie eye anomaly
Silver-Russell syndrome
deaf-mutism
mongolianism
Fanconi anemia
micropsia
anomaly
acephalorrhachia
Léri-Weill dyschondrosteosis
Puestow-Gillesby procedure
Down syndrome
Weill-Marchesani syndrome
Puestow procedure
Down's syndrome
Feingold syndrome
deaf-muteness
mongolism
muscle-eye-brain disease