Baller-Gerold syndrome
Weill-Marchesani syndrome
ablepharon macrostomia syndrome
Miller syndrome
Costello syndrome
Léri-Weill dyschondrosteosis
nail-patella syndrome
faciodigitogenital dysplasia
osteopetrosis
Bart syndrome
Cornelia de Lange syndrome
Aarskog-Scott syndrome
Langer-Giedion syndrome
Marinesco-Sjögren syndrome
Treacher Collins syndrome
Wolf-Hirschhorn syndrome
Pfeiffer syndrome
Hurler's syndrome
Timothy syndrome
phocomelia
gargoylism
lipochondrodystrophy
Pascual-Castroviejo syndrome type 1
dysostosis multiplex
Hurler's disease
cartilage-hair hypoplasia
Brown-Vialetto-Van Laere syndrome
Dubowitz syndrome
pycnodysostosis
pachydermoperiostosis
Nager acrofacial dysostosis
Keutel syndrome
CHARGE syndrome
achondrogenesis
Fanconi anemia
Larsen syndrome
Waardenburg syndrome
Aicardi syndrome
Carpenter syndrome
Levy-Hollister syndrome
Pallister-Hall syndrome
Lowe syndrome
Goldenhar syndrome
ichthyosis hystrix
omodysplasia
Poland syndrome
Sotos syndrome
Townes-Brocks syndrome
ectromelia
Feingold syndrome
polymelia
achondroplasia
clinodactyly
cephalopolysyndactyly
Joubert syndrome
Marfan's syndrome
ectrodactyly
dyschondrosteosis
Edwards syndrome
Down syndrome
tetra-amelia
Aicardi-Goutières syndrome
Berk-Tabatznik syndrome
Börjeson–Forssman–Lehmann syndrome
distal muscular dystrophy
Brown syndrome
Bonnet-Dechaume-Blanc syndrome
Camurati-Engelmann disease
nevoid basal-cell carcinoma syndrome
Rett syndrome
Moebius syndrome
Cowden syndrome
Marshall syndrome
yellow nail syndrome
stiff person syndrome
Ehlers-Danlos syndrome
epizootic
Lambert-Eaton myasthenic syndrome
acheiropody
hypochondroplasia
microcephaly
campomelia
foreign accent syndrome
Dejerine-Sottas disease
onychodysplasia
Prader-Willi syndrome
onychosis
Bartter syndrome
arthrogryposis
Munchausen syndrome
Johanson-Blizzard syndrome
incontinentia pigmenti
genetic disorder
acrocephaly
Munchausen's syndrome
oxycephaly
Urbach-Wiethe disease
craniostenosis
Beckwith-Wiedemann syndrome
cacomelia