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
• acrodental dysostosis of Weyers see Weyers acrofacial dysostosis
• acrofacial dysostosis 1, Nager type see Nager syndrome
• Adamantiades-Behcet disease see Behçet disease
• AFD1 see Nager syndrome
• AI see amelogenesis imperfecta
• amelogenesis imperfecta
• Anhidrotic Ectodermal Dysplasia see hypohidrotic ectodermal dysplasia
• Apert syndrome
• ARS see Axenfeld-Rieger syndrome
• asymmetric hypoplasia of facial structures see craniofacial microsomia
• auriculobranchiogenic dysplasia see craniofacial microsomia
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Axenfeld and Rieger anomaly see Axenfeld-Rieger syndrome
• Axenfeld anomaly see Axenfeld-Rieger syndrome
• Axenfeld-Rieger syndrome
• Axenfeld syndrome see Axenfeld-Rieger syndrome
• AXRA see Axenfeld-Rieger syndrome
• AXRS see Axenfeld-Rieger syndrome
• basal cell nevus syndrome see Gorlin syndrome
• BCNS see Gorlin syndrome
• BDLS see Cornelia de Lange syndrome
• Behçet disease
• 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
• CFM see craniofacial microsomia
• 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 deafness with labyrinthine aplasia, microtia, and microdontia
• Congenital enamel hypoplasia see amelogenesis imperfecta
• congenital plasminogen deficiency
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• Cornelia de Lange syndrome
• Craniofacial dysarthrosis see Crouzon syndrome
• Craniofacial Dysostosis see Crouzon syndrome
• craniofacial microsomia
• Crouzon syndrome
• CST syndrome see hypohidrotic ectodermal dysplasia
• Curry-Hall syndrome see Weyers acrofacial dysostosis
• Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• De Lange Syndrome see Cornelia de Lange syndrome
• deafness with LAMM see congenital deafness with labyrinthine aplasia, microtia, and microdontia
• Deficiency of alkaline phosphatase see hypophosphatasia
• 9q22.3 deletion see 9q22.3 microdeletion
• 9q22 deletion syndrome see 9q22.3 microdeletion
• 22q11.2 deletion syndrome
• dentinogenesis imperfecta
• DGI see dentinogenesis imperfecta
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• dysplasia linguofacialis see oral-facial-digital syndrome
• dystrophic epidermolysis bullosa
• Ellis-van Creveld syndrome
• Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
• Facio-genito-popliteal syndrome see popliteal pterygium syndrome
• facioauriculovertebral dysplasia see craniofacial microsomia
• Familial benign giant-cell tumor of the jaw see cherubism
• familial cystic parathyroid adenomatosis see hyperparathyroidism-jaw tumor syndrome
• Familial fibrous dysplasia of jaw see cherubism
• Familial multilocular cystic disease of the jaws see cherubism
• familial primary hyperparathyroidism with multiple ossifying jaw fibromas see hyperparathyroidism-jaw tumor syndrome
• FAV see craniofacial microsomia
• first and second branchial arch syndrome see craniofacial microsomia
• first and second pharyngeal arch syndromes see craniofacial microsomia
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• Fryns syndrome
• Genee-Wiedemann acrofacial dysostosis see Miller syndrome
• Genee-Wiedemann syndrome see Miller syndrome
• Goldenhar-Gorlin syndrome see craniofacial microsomia
• Goldenhar syndrome see craniofacial microsomia
• Gorlin syndrome
• HED see hypohidrotic ectodermal dysplasia
• hemifacial microsomia see craniofacial microsomia
• hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
• hereditary arthro-ophthalmopathy see Stickler syndrome
• hereditary hyperparathyroidism-jaw tumor syndrome see hyperparathyroidism-jaw tumor syndrome
• Hereditary Opalescent Dentin see dentinogenesis imperfecta
• Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
• Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
• HFM see craniofacial microsomia
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HPT-JT see hyperparathyroidism-jaw tumor syndrome
• Hyper-IgE Syndrome see Job syndrome
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• hyperparathyroidism-jaw tumor syndrome
• hypochondrogenesis
• hypohidrotic ectodermal dysplasia
• hypophosphatasia
• hypoplasminogenemia see congenital plasminogen deficiency
• 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
• LAMM syndrome see congenital deafness with labyrinthine aplasia, microtia, and microdontia
• lateral facial dysplasia see craniofacial microsomia
• Lenz microphthalmia syndrome
• lip-pit syndrome see van der Woude syndrome
• MAA see Lenz microphthalmia syndrome
• mandibulofacial dysostosis (MFD1) see Treacher Collins 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
• 9q22.3 microdeletion
• Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
• Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
• Miller syndrome
• molluscum fibrosum see juvenile hyaline fibromatosis
• Morquio-Brailsford disease see mucopolysaccharidosis type IV
• Morquio Disease see mucopolysaccharidosis type IV
• Morquio Syndrome see mucopolysaccharidosis type IV
• MPS IV see mucopolysaccharidosis type IV
• mucopolysaccharidosis type IV
• Murray syndrome see juvenile hyaline fibromatosis
• NAFD see Nager syndrome
• Nager syndrome
• 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
• OAV complex see craniofacial microsomia
• OAVS see craniofacial microsomia
• obesity-hypotonia syndrome see Cohen syndrome
• oculo-dento-digital dysplasia see oculodentodigital dysplasia
• oculo-dento-osseous dysplasia see oculodentodigital dysplasia
• Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
• oculoauriculovertebral spectrum see craniofacial microsomia
• oculodentodigital dysplasia
• oculodentoosseous dysplasia see oculodentodigital dysplasia
• oculofaciocardiodental syndrome
• ODD syndrome see oculodentodigital dysplasia
• ODDD see oculodentodigital dysplasia
• ODOD see oculodentodigital dysplasia
• OFCD syndrome see oculofaciocardiodental syndrome
• OFDS see oral-facial-digital syndrome
• Old Silk Route disease see Behçet disease
• oral-facial-digital syndrome
• oral-mandibular-auricular syndrome see craniofacial microsomia
• oro-facio-digital syndrome see oral-facial-digital syndrome
• orodigitofacial dysostosis see oral-facial-digital syndrome
• orodigitofacial syndrome see oral-facial-digital syndrome
• orofaciodigital syndrome see oral-facial-digital syndrome
• OSMED see otospondylomegaepiphyseal dysplasia
• osseous-oculo-dental dysplasia see oculodentodigital dysplasia
• Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
• otomandibular dysostosis see craniofacial microsomia
• otospondylomegaepiphyseal dysplasia
• Pepper syndrome see Cohen syndrome
• Phosphoethanolaminuria see hypophosphatasia
• Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
• popliteal pterygium syndrome
• postaxial acrofacial dysostosis (POADS) see Miller syndrome
• PPS see popliteal pterygium syndrome
• preaxial acrofacial dysostosis see Nager syndrome
• preaxial mandibulofacial dysostosis see Nager syndrome
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• Puretic syndrome see juvenile hyaline fibromatosis
• Rieger anomaly see Axenfeld-Rieger syndrome
• Rieger syndrome see Axenfeld-Rieger 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
• 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
• triple symptom complex see Behçet disease
• unilateral intrauterine facial necrosis see craniofacial microsomia
• unilateral mandibulofacial dysostosis see craniofacial microsomia
• 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
• Weyers acrofacial dysostosis
• WZS see Weissenbacher-Zweymüller syndrome
• zygoauromandibular dysplasia see Treacher Collins syndrome