CHARGE syndrome
Weill-Marchesani syndrome
Berk-Tabatznik syndrome
Pfeiffer syndrome
Lowe syndrome
Pallister-Hall syndrome
Miller syndrome
Waardenburg syndrome
Langer-Giedion syndrome
GAPO syndrome
Levy-Hollister syndrome
Wolf-Hirschhorn syndrome
Duane syndrome
Baller-Gerold syndrome
Stickler syndrome
Aicardi syndrome
pachydermoperiostosis
faciodigitogenital dysplasia
Costello syndrome
Marshall syndrome
Timothy syndrome
Pascual-Castroviejo syndrome type 1
Pashayan syndrome
Keutel syndrome
Goldenhar syndrome
Norrie disease
Moebius syndrome
Marinesco-Sjögren syndrome
Bart syndrome
Carpenter syndrome
Townes-Brocks syndrome
RIDDLE syndrome
cartilage-hair hypoplasia
piebaldism
Urbach-Wiethe disease
Brown-Vialetto-Van Laere syndrome
Laurence-Moon syndrome
Feingold syndrome
aniridia
genetic disorder
ectrodactyly
Usher syndrome
incontinentia pigmenti
hypochondroplasia
Börjeson–Forssman–Lehmann syndrome
Fanconi anemia
Brown syndrome
Treacher Collins syndrome
Cornelia de Lange syndrome
Camurati-Engelmann disease
Nijmegen breakage syndrome
Munchausen syndrome
3C syndrome
Noonan syndrome
Munchausen's syndrome
Klüver-Bucy syndrome
Noonan's syndrome
Nager acrofacial dysostosis
craniostenosis
Bartter syndrome
xanthopia
Landau-Kleffner syndrome
red ear syndrome
Léri-Weill dyschondrosteosis
cardioauditory
Cowden syndrome
adermatoglyphia
ablepharon macrostomia syndrome
Dubowitz syndrome
oncome
Bonnet-Dechaume-Blanc syndrome
Joubert syndrome
Johanson-Blizzard syndrome
anodontia
Vohwinkel syndrome
syndromically
maculopathy
Shwachman-Diamond syndrome
nail-patella syndrome
Sjögren-Larsson syndrome
Cockayne syndrome
ophthalmopathic
holoprosencephaly
progeria
chondropathic
hypoganglionosis
Down syndrome
pseudolesion
syndromal
macroglossia
Poland syndrome
lonomic
athetoid
xanthopsia
audiopathy
Sotos syndrome
syndromics
osteopetrosis
eye disease
Weaver syndrome