Treacher Collins syndrome
Carpenter syndrome
Timothy syndrome
Pfeiffer syndrome
Noonan syndrome
Wolf-Hirschhorn syndrome
ablepharon macrostomia syndrome
Weaver syndrome
Pascual-Castroviejo syndrome type 1
Camurati-Engelmann disease
Baller-Gerold syndrome
acephalocheiria
Cornelia de Lange syndrome
adermatoglyphia
Léri-Weill dyschondrosteosis
acephalopodia
craniostenosis
holoprosencephaly
Nager acrofacial dysostosis
abrachiocephalia
lipochondrodystrophy
Hurler's syndrome
gargoylism
Hurler's disease
Landau-Kleffner syndrome
achondrogenesis
dysostosis multiplex
Weill-Marchesani syndrome
ectrodactyly
Batten disease
Aicardi syndrome
acheiropody
ectromelia
Marinesco-Sjögren syndrome
Schinzel-Giedion syndrome
oligodactyly
Rett syndrome
congenital contractural arachnodactyly
Bonnet-Dechaume-Blanc syndrome
3C syndrome
Cockayne syndrome
acrocephalosyndactylia
phocomelia
Feingold syndrome
trichothiodystrophy
dysmelia
Johanson-Blizzard syndrome
malformation
clinodactyly
craniosynostotic
tetra-amelia
polymelia
Moebius syndrome
Diamond-Blackfan anemia
Beckwith-Wiedemann syndrome
Berk-Tabatznik syndrome
acephalism
polymalformative
pseudolesion
arthrogryposis
Lowe syndrome
minicraniotomy
symbrachydactyly
encephalomyelocele
Miller syndrome
CHARGE syndrome
Axenfeld syndrome
Bart syndrome
hereditary hemorrhagic telangiectasia
acephalorrhachia
Dejerine-Sottas disease
stiff person syndrome
Duane syndrome
acephalocardia
Nijmegen breakage syndrome
abrachiocephaly
Joubert syndrome
alopecia congenitalis
ectodermosis
Pallister-Hall syndrome
mongolism
Costello syndrome
cranioschisis
acrobrachycephaly
syndromic
embryopathy
Down's syndrome
trisomy 21
Poland syndrome
Dubowitz syndrome
Beals-Hecht syndrome
teratologic
mongolianism
Down syndrome
craniostenotic
Edwards syndrome
autosomal dominant disease
autosomal dominant disorder
Marfan's syndrome
acrodysplasia