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 see amelogenesis imperfecta
• amelogenesis imperfecta
• Anhidrotic Ectodermal Dysplasia see hypohidrotic ectodermal dysplasia
• Apert syndrome
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Basal Cell Nevus Syndrome see Gorlin syndrome
• BCNS see Gorlin syndrome
• BDLS see Cornelia de Lange syndrome
• Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• Buckley syndrome see Job syndrome
• CATCH22 see 22q11.2 deletion syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CDLS see Cornelia de Lange syndrome
• cherubism
• Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
• Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
• Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia
• cleft lip and/or palate with mucous cysts of lower lip see van der Woude syndrome
• Cohen 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
• CST syndrome see hypohidrotic ectodermal dysplasia
• Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• De Lange Syndrome see Cornelia de Lange syndrome
• Deficiency of alkaline phosphatase see hypophosphatasia
• 22q11.2 deletion syndrome
• dentinogenesis imperfecta
• DGI see dentinogenesis imperfecta
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• dystrophic epidermolysis bullosa
• Ellis-van Creveld syndrome
• Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
• Facio-genito-popliteal syndrome see popliteal pterygium syndrome
• Familial benign giant-cell tumor of the jaw see cherubism
• Familial fibrous dysplasia of jaw see cherubism
• Familial multilocular cystic disease of the jaws see cherubism
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• Gorlin syndrome
• HED see hypohidrotic ectodermal dysplasia
• hereditary arthro-ophthalmo-dystrophy see Stickler 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
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• Hyper-IgE Syndrome see Job syndrome
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• hypochondrogenesis
• hypohidrotic ectodermal dysplasia
• hypophosphatasia
• Hypotonia, obesity, and prominent incisors see Cohen syndrome
• infantile systemic hyalinosis
• inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
• Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
• Job syndrome
• juvenile hyaline fibromatosis
• Kniest dysplasia
• Lenz microphthalmia syndrome
• lip-pit syndrome see van der Woude syndrome
• MAA see Lenz microphthalmia syndrome
• Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
• Marfan syndrome
• MCOPS1 see Lenz microphthalmia syndrome
• MCOPS2 see oculofaciocardiodental syndrome
• Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
• Metatropic dwarfism, type II see Kniest dysplasia
• Metatropic dysplasia type II see Kniest dysplasia
• MFS see Marfan syndrome
• Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
• molluscum fibrosum see juvenile hyaline fibromatosis
• Murray syndrome see juvenile hyaline fibromatosis
• Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
• Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
• NBCCS see Gorlin syndrome
• Nevoid Basal Cell Carcinoma Syndrome see Gorlin syndrome
• Norio syndrome see Cohen syndrome
• obesity-hypotonia syndrome see Cohen syndrome
• Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
• oculofaciocardiodental syndrome
• OFCD syndrome see oculofaciocardiodental syndrome
• OSMED see otospondylomegaepiphyseal dysplasia
• Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
• otospondylomegaepiphyseal dysplasia
• Pepper syndrome see Cohen syndrome
• Phosphoethanolaminuria see hypophosphatasia
• Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
• popliteal pterygium syndrome
• PPS see popliteal pterygium syndrome
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• Puretic syndrome see juvenile hyaline fibromatosis
• 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
• Stickler syndrome
• Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• Swiss cheese cartilage dysplasia see Kniest dysplasia
• Systemic hyalinosis see juvenile hyaline fibromatosis
• Treacher Collins syndrome
• van der Woude syndrome
• VCFS see 22q11.2 deletion syndrome
• VDWS see van der Woude syndrome
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• VWS see van der Woude syndrome
• Weissenbacher-Zweymüller syndrome
• WZS see Weissenbacher-Zweymüller syndrome
• zygoauromandibular dysplasia see Treacher Collins syndrome