Carpenter syndrome
Treacher Collins syndrome
Pfeiffer syndrome
Hurler's disease
dysostosis multiplex
gargoylism
Hurler's syndrome
lipochondrodystrophy
Weaver syndrome
Noonan syndrome
Feingold syndrome
Wolf-Hirschhorn syndrome
adermatoglyphia
Landau-Kleffner syndrome
dysmorphology
Weill-Marchesani syndrome
Griscelli syndrome
Bonnet-Dechaume-Blanc syndrome
Börjeson–Forssman–Lehmann syndrome
ablepharon macrostomia syndrome
Baller-Gerold syndrome
Joubert syndrome
Shwachman-Diamond syndrome
Marinesco-Sjögren syndrome
Chédiak-Higashi syndrome
CHARGE syndrome
Johanson-Blizzard syndrome
teratism
Cornelia de Lange syndrome
triple A syndrome
pseudolesion
cartilage-hair hypoplasia
Lowe syndrome
Urbach-Wiethe disease
Meckel-Gruber syndrome
Keutel syndrome
acquired disorder
3C syndrome
Camurati-Engelmann disease
piebaldism
histidinemia
Berk-Tabatznik syndrome
McKusick-Kaufman syndrome
hereditary hemorrhagic telangiectasia
Pallister-Hall syndrome
acrobrachycephaly
faciodigitogenital dysplasia
teratogenesis
acrocephalosyndactylia
Bart syndrome
autosomal recessive defect
subsyndrome
alopecia congenitalis
autosomal recessive disease
genetic disorder
holoprosencephaly
cranioschisis
ichthyosis bullosa of Siemens
Beckwith-Wiedemann syndrome
Cowden syndrome
Hermansky-Pudlak syndrome
ichthyosis hystrix
pycnodysostosis
Axenfeld syndrome
achondroplasia
POEMS syndrome
aetiopathogenesis
Nijmegen breakage syndrome
Cockayne syndrome
acheiropody
hypoganglionosis
pachydermoperiostosis
Dravet syndrome
progeria
Moebius syndrome
Seckel syndrome
congenital contractural arachnodactyly
dysfibrinogenemia
nepiophilia
microstrabismus
achondroplasty
chondrodysplasia
atopy
microtropia
cloverleaf skull
acephalocheiria
chondrodystrophy