Treacher Collins syndrome
Carpenter syndrome
Pfeiffer syndrome
Noonan syndrome
Wolf-Hirschhorn syndrome
Weaver syndrome
ablepharon macrostomia syndrome
Camurati-Engelmann disease
Baller-Gerold syndrome
acephalocheiria
Cornelia de Lange syndrome
adermatoglyphia
Léri-Weill dyschondrosteosis
abrachiocephalia
holoprosencephaly
Nager acrofacial dysostosis
acephalopodia
Landau-Kleffner syndrome
gargoylism
dysostosis multiplex
lipochondrodystrophy
Hurler's disease
Hurler's syndrome
Weill-Marchesani syndrome
achondrogenesis
ectrodactyly
acheiropody
oligodactyly
Marinesco-Sjögren syndrome
ectromelia
Rett syndrome
Schinzel-Giedion syndrome
congenital contractural arachnodactyly
Cockayne syndrome
3C syndrome
Bonnet-Dechaume-Blanc syndrome
acrocephalosyndactylia
trichothiodystrophy
Feingold syndrome
phocomelia
dysmelia
malformation
polymelia
clinodactyly
tetra-amelia
Johanson-Blizzard syndrome
Moebius syndrome
acephalism
Beckwith-Wiedemann syndrome
Berk-Tabatznik syndrome
Diamond-Blackfan anemia
encephalomyelocele
pseudolesion
minicraniotomy
Miller syndrome
arthrogryposis
CHARGE syndrome
Lowe syndrome
Axenfeld syndrome
symbrachydactyly
acephalorrhachia
stiff person syndrome
Bart syndrome
Dejerine-Sottas disease
hereditary hemorrhagic telangiectasia
alopecia congenitalis
Duane syndrome
Joubert syndrome
ectodermosis
Nijmegen breakage syndrome
abrachiocephaly
acephalocardia
Down's syndrome
mongolism
acrobrachycephaly
Down syndrome
Poland syndrome
trisomy 21
mongolianism
Costello syndrome
cranioschisis
Pallister-Hall syndrome
Beals-Hecht syndrome
embryopathy
acrodysplasia
autosomal dominant disease
Edwards syndrome
Marfan's syndrome
autosomal dominant disorder