Genetic Diseases & Conditions - Mouth and teeth

The mouth and teeth allow a person to chew, swallow, breathe, and speak. Disorders can occur when the genes controlling the development or function of these structures are altered.

Acrocephalosyndactyly (Apert) see Apert syndrome
AI - Amelogenesis imperfecta see amelogenesis imperfecta
amelogenesis imperfecta
Apert syndrome
Arachnodactyly see Marfan syndrome
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
BDLS see Cornelia de Lange syndrome
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
CATCH22 see 22q11.2 deletion syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CDLS see Cornelia de Lange syndrome
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
Congenital enamel hypoplasia see amelogenesis imperfecta
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Cornelia de Lange syndrome
Craniofacial dysarthrosis see Crouzon syndrome
Craniofacial Dysostosis see Crouzon syndrome
Crouzon syndrome
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
De Lange Syndrome see Cornelia de Lange syndrome
22q11.2 deletion syndrome
dentinogenesis imperfecta
DGI see dentinogenesis imperfecta
DiGeorge Syndrome see 22q11.2 deletion syndrome
Ellis-van Creveld syndrome
Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
Hereditary arthro-ophthalmopathy see Stickler syndrome
Hereditary Opalescent Dentin see dentinogenesis imperfecta
Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
hypochondrogenesis
Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
Kniest dysplasia
Mandibulofacial Dysostosis see Treacher Collins syndrome
Marfan syndrome
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
Metatropic dwarfism, type II see Kniest dysplasia
Metatropic dysplasia type II see Kniest dysplasia
MFD1 see Treacher Collins syndrome
MFS see Marfan syndrome
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
OSMED see otospondylomegaepiphyseal dysplasia
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
RSTS see Rubinstein-Taybi syndrome
RTS see Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome
SED congenita see spondyloepiphyseal dysplasia congenita
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
SEDc see spondyloepiphyseal dysplasia congenita
Sedlackova syndrome see 22q11.2 deletion syndrome
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
Shprintzen syndrome see 22q11.2 deletion syndrome
SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal Dysplasia, Strudwick Type see spondyloepimetaphyseal dysplasia, Strudwick type
Stickler syndrome
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Swiss cheese cartilage dysplasia see Kniest dysplasia
Treacher Collins syndrome
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
Weissenbacher-Zweymüller syndrome
WZS see Weissenbacher-Zweymüller syndrome