Medical Conditions
Behavior & neurodevelopment
Down syndrome(Trisomy 21)
Extra chromosome 21 with hypotonia and variable developmental disability.
Autism spectrum disorder(ASD)
Differences in social communication with restricted or repetitive behaviors.
Attention-deficit/hyperactivity disorder(ADHD)
Persistent inattention, hyperactivity, or impulsivity affecting daily function.
Cerebral palsy(CP)
Permanent movement and posture disorders from nonprogressive brain injury.
Epilepsy and seizure disorders
Recurrent unprovoked seizures from abnormal brain electrical activity.
Fragile X syndrome
FMR1-related condition with variable intellectual and developmental disability.
Lesch–Nyhan syndrome
Purine metabolism disorder with motor dysfunction and self-injury.
Prader–Willi syndrome
Imprinting disorder with hypotonia and later hyperphagia.
Rett syndrome
Developmental regression with loss of hand use and repetitive movements.
Spina bifida(Myelomeningocele; neural tube defect)
Incomplete development of the spine and spinal cord.
Duchenne muscular dystrophy(DMD; Becker muscular dystrophy is the milder form)
Absent dystrophin causing progressive childhood muscle weakness.
Fetal alcohol spectrum disorders(FASD; fetal alcohol syndrome (FAS))
Developmental and physical effects of prenatal alcohol exposure.
Angelman syndrome
UBE3A-related neurodevelopmental disorder with severe speech impairment, ataxia, and seizures.
Aicardi syndrome
Congenital neurodevelopmental disorder characterized by callosal abnormalities, chorioretinal lacunae, and infantile spasms.
Cri du chat syndrome
Chromosome 5p deletion with developmental disability, a characteristic infant cry, and variable craniofacial anomalies.
Cornelia de Lange syndrome
Cohesin-related developmental disorder with growth restriction, characteristic facial features, and variable limb anomalies.
Cockayne syndrome
DNA-repair disorder with growth failure, photosensitivity, and progressive neurologic impairment.
Muscular dystrophies
Genetically heterogeneous progressive muscle disorders with subtype-dependent respiratory, cardiac, and swallowing risks.
Neural tube defects
Early developmental defects of brain or spinal closure, including spina bifida, encephalocele, and anencephaly.
NF2-related schwannomatosis
NF2-related tumor predisposition with vestibular schwannomas and other nervous-system tumors, distinct from NF1.
Kleefstra syndrome
EHMT1-related disorder with hypotonia, developmental disability, and marked expressive-language impairment.
Dandy-Walker malformation
Cerebellar and posterior-fossa developmental malformation with variable hydrocephalus, motor, and developmental effects.
Sotos syndrome
NSD1-related overgrowth disorder with macrocephaly, characteristic facial appearance, and developmental or learning difficulties.
Sanfilippo syndrome
Mucopolysaccharidosis type III with heparan-sulfate accumulation and progressive neurodevelopmental decline.
Moebius syndrome
Congenital facial weakness and impaired eye abduction, with possible feeding, tongue, and limb abnormalities.
Cardiac & respiratory
Tetralogy of Fallot(ToF)
Four-part congenital heart defect with right ventricular outflow obstruction.
Asthma
Airway inflammation with variable obstruction and episodic wheezing.
Cystic fibrosis(CF)
CFTR dysfunction causing thick secretions, especially in lungs and pancreas.
Marfan syndrome
Connective-tissue disorder affecting the skeleton, eyes, and aorta.
Noonan syndrome
RAS/MAPK disorder with variable short stature, heart defects, and bleeding.
Williams syndrome(Williams–Beuren syndrome)
7q11.23 deletion with developmental differences and cardiovascular disease.
Kawasaki disease(Mucocutaneous lymph node syndrome)
Childhood vasculitis that can damage the coronary arteries.
Congenital heart disease(CHD; acyanotic and cyanotic heart defects)
Structural heart or great-vessel abnormalities present at birth.
Allergic rhinitis
Allergen-mediated nasal inflammation causing congestion, itching, sneezing, and mouth breathing.
Tuberculosis
Mycobacterium tuberculosis infection; infectious pulmonary or laryngeal disease requires airborne precautions.
Congestive heart failure
Impaired cardiac function causing inadequate perfusion or congestion; stability and underlying disease determine dental risk.
Cardiac arrhythmias
Abnormal cardiac rhythm or conduction, ranging from benign variation to hemodynamic instability.
Dextro-transposition of the great arteries
The aorta arises from the right ventricle and pulmonary artery from the left, creating parallel circulations.
Hypoplastic left heart syndrome
Underdevelopment of left-sided cardiac structures requiring staged palliation or transplantation.
Bleeding & blood
Hemophilia A and B(Factor VIII or IX deficiency; hemophilia B is Christmas disease)
Factor VIII or IX deficiency causing impaired clotting.
Sickle cell disease(HbSS, sickle cell anemia)
Hemoglobin S disorders causing hemolytic anemia and small-vessel obstruction.
Immune thrombocytopenia(ITP, idiopathic thrombocytopenic purpura)
Immune-mediated platelet loss causing bruising or mucosal bleeding.
Leukemia (ALL and AML)
Cancer of blood-forming tissues disrupting normal blood-cell production.
Von Willebrand disease(vWD; the most common inherited bleeding disorder)
Deficient or defective von Willebrand factor causing impaired hemostasis.
Beta thalassemia(Thalassemia major (Cooley anemia), thalassemia intermedia)
Reduced beta-globin production causing anemia of variable severity.
Neuroblastoma and sympathetic nervous system tumors
Neuroblastoma is a childhood malignancy of immature sympathetic nerve tissue; treatment and late effects determine dental care.
Pediatric soft tissue sarcomas
Mesenchymal malignancies including rhabdomyosarcoma and other sarcomas; head and neck masses require prompt diagnosis.
Pediatric malignant bone tumors
Osteosarcoma and Ewing sarcoma may present with progressive bone pain, swelling, or destructive jaw lesions.
Pediatric lymphoma
Hodgkin and non-Hodgkin malignancies of lymphoid tissue, sometimes presenting with persistent nodes or oral and jaw swelling.
Li-Fraumeni syndrome
TP53-related cancer predisposition with early-onset and multiple primary malignancy risk.
Thrombotic thrombocytopenic purpura
ADAMTS13 deficiency causing microvascular thrombosis, thrombocytopenia, and microangiopathic hemolytic anemia.
Immune & periodontal
Langerhans cell histiocytosis(LCH, histiocytosis X)
Abnormal myeloid-cell lesions affecting bone, skin, or multiple organs.
Cyclic neutropenia
Recurring neutrophil lows with infection risk and oral ulceration.
Papillon–Lefèvre syndrome(Palmoplantar keratoderma with periodontitis)
Palmoplantar skin thickening with severe early-onset periodontitis.
Leukocyte adhesion deficiency(LAD)
Defective white-cell migration causing infections and poor wound healing.
HIV infection
Viral infection that targets CD4 cells and weakens cellular immunity.
DiGeorge syndrome(22q11.2 deletion syndrome; velocardiofacial syndrome)
22q11.2 deletion with variable cardiac, palatal, and immune abnormalities.
Hypophosphatasia(HPP; alkaline phosphatase deficiency)
Low alkaline phosphatase activity impairing bone and tooth mineralization.
Juvenile idiopathic arthritis(JIA; childhood inflammatory arthritis; formerly juvenile rheumatoid arthritis)
Childhood inflammatory arthritis that can involve the temporomandibular joint.
Chediak-Higashi syndrome
LYST-related immune dysfunction with partial albinism, bleeding tendency, and severe early periodontitis.
Behçet disease
Multisystem inflammatory vasculitis with recurrent oral ulcers and possible genital, ocular, vascular, or neurologic disease.
PFAPA syndrome
Recurrent fever syndrome with aphthous stomatitis, pharyngitis, and cervical adenitis; children are well between episodes.
Systemic lupus erythematosus
Relapsing autoimmune disease with mucocutaneous findings and variable renal, hematologic, vascular, and neurologic involvement.
Multisystem inflammatory syndrome in children
Serious post-SARS-CoV-2 inflammatory illness with possible shock and cardiac or other organ injury.
Endocrine, GI & renal
Diabetes mellitus(Type 1 and type 2)
Persistent hyperglycemia from inadequate insulin secretion or action.
Adrenal insufficiency(Addison disease; secondary insufficiency from chronic steroids)
Inadequate cortisol production, sometimes with aldosterone deficiency.
Chronic kidney disease and ESRD(Dialysis and kidney transplant)
Persistent kidney damage, progressing to kidney failure in ESRD.
Crohn disease(Inflammatory bowel disease)
Patchy inflammatory bowel disease that can affect mouth to anus.
Celiac disease
Gluten-triggered immune injury to the small intestine.
Gastroesophageal reflux disease(GERD)
Reflux causing troublesome symptoms or complications.
Eating disorders(Anorexia nervosa, bulimia nervosa)
Disordered eating with nutritional, systemic, and oral consequences.
Klinefelter syndrome(47,XXY)
Additional X chromosome in males with variable endocrine and learning effects.
Turner syndrome(45,X and related mosaic forms)
Loss of all or part of one X chromosome in females.
X-linked hypophosphatemia(XLH; vitamin D-resistant rickets; hypophosphatemic rickets)
Renal phosphate wasting causing impaired bone and tooth mineralization.
Ulcerative colitis
Inflammatory bowel disease affecting the colonic mucosa, with diarrhea, bleeding, and possible oral or extraintestinal disease.
Congenital adrenal hyperplasia and testicular adrenal rest tumors
Adrenal steroid-synthesis disorders; cortisol deficiency and the endocrine plan determine procedural risk.
Hypothyroidism
Insufficient thyroid hormone causing slowed metabolism, with important growth and neurodevelopmental consequences in congenital disease.
Hyperthyroidism
Excess thyroid hormone, often from Graves disease in children, with tachycardia, heat intolerance, and weight or behavior changes.
Peutz-Jeghers syndrome
STK11-related hamartomatous polyposis with mucocutaneous pigmentation and increased cancer risk.
Fibrous dysplasia and McCune-Albright syndrome
Mosaic GNAS-related fibrous dysplasia with variable skin pigmentation and endocrine hyperfunction.
Pediatric obesity
Chronic multifactorial disease assessed with age- and sex-specific growth measures and associated health risks.
Craniofacial & dental genetics
Cleft lip and palate(CL/P)
Congenital openings in the upper lip, palate, or both.
Pierre Robin sequence(PRS)
Small mandible and backward tongue displacement causing airway obstruction.
Cleidocranial dysplasia(Cleidocranial dysostosis)
Skeletal disorder with clavicle abnormalities and altered tooth eruption.
Ectodermal dysplasia(Hypohidrotic ED (Christ–Siemens–Touraine))
Inherited abnormalities of teeth, hair, nails, skin, or sweat glands.
Osteogenesis imperfecta(Brittle bone disease)
Inherited connective-tissue disorders causing fragile bones and recurrent fractures.
Epidermolysis bullosa(EB)
Skin and sometimes mucosal fragility causing trauma-induced blistering.
Gardner syndrome(Familial adenomatous polyposis variant)
Familial adenomatous polyposis with osteomas and dental abnormalities.
Sturge–Weber syndrome(Encephalotrigeminal angiomatosis)
Skin and brain vascular abnormalities, often with seizures.
Apert syndrome
Craniosynostosis with midface underdevelopment and fused fingers and toes.
Achondroplasia
Skeletal dysplasia causing disproportionate short stature.
Beckwith–Wiedemann syndrome(Beckwith-Wiedemann spectrum; BWS)
Overgrowth disorder with variable macroglossia and tumor predisposition.
Crouzon syndrome
Craniosynostosis with shallow eye sockets and midface underdevelopment.
Ellis–van Creveld syndrome(Chondroectodermal dysplasia)
Skeletal disorder with short limbs, extra digits, and dental abnormalities.
Hallermann–Streiff syndrome
Congenital craniofacial disorder with eye and dental abnormalities.
Neurofibromatosis type 1(NF1; von Recklinghausen disease)
Genetic condition with pigmentary changes and tumors along nerves.
Orofaciodigital syndrome(Oral-facial-digital syndrome; OFD)
Genetic disorders affecting the mouth, face, and digits.
Treacher Collins syndrome(Mandibulofacial dysostosis)
Craniofacial disorder with underdeveloped cheekbones and mandible.
Amelogenesis imperfecta(AI; hereditary enamel defects)
Inherited defects in enamel thickness, hardness, or maturation.
Dentinogenesis imperfecta(DI; hereditary opalescent dentin)
Inherited dentin defects causing discolored, fragile teeth.
CHARGE syndrome
CHD7-related disorder with variable eye, heart, choanal, growth, genital, and ear abnormalities.
VACTERL association
Nonrandom association of vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb anomalies.
Proteus syndrome
Mosaic AKT1-related progressive asymmetric overgrowth with vascular, skeletal, and pulmonary risks.
Rubinstein-Taybi syndrome
CREBBP- or EP300-related disorder with broad thumbs and halluces, developmental disability, and dental talon cusps.
Stickler syndrome
Collagen disorder with ocular, hearing, joint, and craniofacial disease, sometimes presenting as Robin sequence.
Kabuki syndrome
KMT2D- or KDM6A-related developmental disorder with characteristic facial features and variable dental, cardiac, and immune abnormalities.
KBG syndrome
ANKRD11-related developmental disorder characterized by macrodontia of permanent maxillary central incisors.
Goldenhar syndrome and craniofacial microsomia
Oculo-auriculo-vertebral spectrum with asymmetric mandibular, ear, soft-tissue, and sometimes vertebral development.
Ehlers-Danlos syndromes
Heterogeneous connective-tissue disorders with subtype-dependent joint, skin, periodontal, and vascular fragility.
Pfeiffer syndrome
FGFR-related craniosynostosis with broad thumbs and great toes, midface hypoplasia, and variable airway disease.
Mucopolysaccharidoses
Lysosomal glycosaminoglycan-storage disorders with subtype-dependent skeletal, airway, cardiac, and neurologic disease.