High-Yield Conditions to Know for the INBDE

Cleft Lip (CL)

Presentation: 

• Failure of fusion of medial nasal prominence and maxillary prominence 

Key Facts:

• Maternal risks during pregnancy for CL: alcohol, tobacco, anticonvulsants
• Most CL is unilateral
• More common on the left side 
• More common in males (with or without CP) 
• Most common in Asian American males 
• 10% associated with syndromes (Van der Woude, Edwards Syndrome, Patau Syndrome) 

Treatment:

• Repaired surgically at age 3-6 months 

Cleft Palate (CP)

Presentation: 

• Failure of fusion of the palatal shelves

Key Facts: 

• More common in females 
• Submucous CP: muscles of soft palate do not fuse, mucous membranes of intact, often associated with bifid uvula 
• Associated with Van Der Woude, Edwards, Patau, DiGeorge Syndrome, Pierre Robin Sequence

Treatment: 

• Can include surgical repair at 6-12 months, feeding assistance, speech therapy, alveolar bone grafting at 8-12 years, orthodontic treatment at 12-15 years 

Lip pits 

Presentation: 

• Invaginations at commissures or near the midline of the lips

Key Facts:

• Commissural lip pits: at the corners of the mouth 
• Paramedian lip pits: bilateral on either side of the midline of the lips
• Paramedian lip pits are associated with Van Der Woude Syndrome

Treatment:

• No treatment is necessary or may be excised for cosmetics  

Lingual thyroid  

Presentation: 

• Thyroid tissue mass at the midline base of the tongue

Key Facts:

• Most common location of ectopic thyroid
• 70% of the time this is the only thyroid tissue

Treatment: 

• No treatment just follow up 
• Avoid biopsy, it may be only thyroid tissue and can be very vascular 

Amelogenesis imperfecta 

Presentation: 

• Genetic condition which results in the production of defective enamel
• Teeth can be discoloured (yellow, brown), pitted, and thin

Key Facts: 

• Type I - hypoplastic (affects quantity of enamel)
• Type II - hypomaturation (affects quantity and quality of enamel)
• Type III - hypocalcified (affects quality of enamel)
• Teeth are very susceptible to caries 
• Caused by issues during histodifferentiation or bell stage of tooth development (11 weeks)

Treatment: 

• Prosthodontics, periodontics, restorative, and/or endodontics may be necessary

Dentinogenesis imperfecta 

Presentation: 

• Autosomal dominant genetic condition involving abnormal production of dentin
• Teeth tend to be discolored (blue-gray or yellow-brown), translucent, highly worn, and present with bulbous crowns with small or missing pulp canals

Key Facts: 

• Type I: Associated with osteogenesis imperfecta (brittle bones and blue sclera). 
• Type II: Most common, only a dentin abnormality exists without bony involvement
• Type III: Brandywine type, very rare, shell teeth with multiple pulp exposures.
• Caused by issues during histodifferentiation or bell stage of tooth development (11 weeks)

Treatment: 

• Prosthodontics, restorative, and/or orthodontics may be necessary

Osteogenesis imperfecta 

Presentation: 

• Autosomal dominant genetic condition resulting in abnormally formed collagen or too little collagen in the bony extracellular matrix
• Most commonly present with blue sclera and brittle bones

Key Facts: 

• On their own, these disorders do not affect the morphology of the teeth but can be associated with a disorder that does (dentinogenesis imperfecta)

Treatment: 

• May include physical therapy, medication, surgery 
• If teeth affected, prosthodontics, restorative, and/or orthodontics may be necessary

Cleidocranial dysplasia

Presentation: 

• Autosomal dominant genetic condition that involves a mutation affecting the differentiation of osteoblasts implicated in both membranous and endochondral ossification
• Underdeveloped or absent clavicles, prominent skull with wormian bones, mandibular prognathism, hypertelorism (wide-set eyes) 

Key Facts: 

• Oral manifestations: supernumerary teeth, prolonged retention of primary teeth, high prevalence of cleft palate

Treatment: 

• Combined surgical, orthodontic treatment to address oral manifestations
• May include surgery to reconstruct face, cheekbones, and head 

Ectodermal dysplasia

Presentation: 

• Group of genetic disorders that involve abnormalities of structures derived from the ectoderm layer of the embryo in development
• Often present with brittle hair, microdontia, hypodontia on the maxilla and the mandible, multiple sharply pointed teeth

Key Facts: 

• Criteria for ectodermal dysplasia is met when two or more tissues of ectodermal origin are affected
• Other clinical features: absent sweating, poorly developed or brittle nails, and dry skin

Treatment: 

• Early and significant dental treatment that can include orthodontics and prosthodontics

Dentin dysplasia

Presentation: 

• Autosomal dominant genetic condition that results in abnormal dentin and pulpal morphology

Key Facts: 

• Type I: teeth with chevron shaped remnants of pulp, minimal root development, affects both primary and permanent dentition (radicular) 
• Type II: thistle tube-shaped pulps, roots normal but pulp chambers are abnormal, primary teeth show blueish or amber discoloration (coronal) 

Treatment: 

• Conventional endodontic therapy, periapical curettage or other treatments to keep primary teeth as long as possible 

Cherubism

Presentation: 

• Autosomal dominant genetic condition where bone is replaced with cystic tissue during growth, usually beginning around 3 years of age
• Cheeks enlarge, and in more severe cases the eyes may be pushed upward

Key Facts: 

• Radiographically: multilocular bilateral lesions on the ramus which are histologically identical to those of a central giant cell granuloma. 
• Slowly enlarging mandible and maxilla in childhood
• Can present with displaced, unerupted, unformed, or even absent teeth
• After puberty, the majority of cases will begin to reverse as bone will fill the cystic tissue.

Treatment: 

• Can include local curettage of the lesions, jaw contouring, intralesional steroid injections, and systemic calcitonin administration

Gardner Syndrome

Presentation: 

• Autosomal dominant disorder associated with development of hundreds of adenomatous polyps in the colon and rectum and osteomas in jaw and mandible that may obliterate sinuses or cause facial asymmetry

Key Facts: 

• Cotton-wool appearance of the jaws
• ​​May include the formation of tumors of soft tissue, epidermoid cysts of the skin, supernumerary teeth, impacted teeth, and desmoid tumors
• Polyps have a high risk of becoming colonic tumors and colon cancer

Treatment: 

• Patients with this syndrome will generally have a prophylactic colectomy performed as the risk of developing colon adenocarcinoma is very high

Gorlin-Goltz Syndrome

Presentation: 

• Autosomal dominant genetic disorder associated with multiple odontogenic keratocysts, bifid ribs, calcification of the falx cerebri and multiple basal cell carcinomas

Key Facts: 

• ​​Also known as nevoid basal-cell carcinoma syndrome

Treatment: 

• Prevention, management and removal of associated tumors and cysts

Regional odontodysplasia 

Presentation: 

• Non-hereditary abnormality of hard tissues which affects teeth in a particular region or quadrant of either arch 
• Presents with teeth that have short roots, open apices and enlarged pulp chambers, sometimes referred to as ghost teeth

Key Facts: 

• ​​Poor mineralization of dentin and enamel contributes to the radiolucent pulp space on radiographs appearing much larger than normal

Treatment: 

• Recommended treatment involves extraction with prosthetic replacement of involved teeth

Down Syndrome 

Presentation: 

• Trisomy 21 associated with maxillary hypoplasia, macroglossia, and decreased muscle tone

Key Facts: 

• Other features include ​​flattened facial profile, delayed tooth eruption, hypodontia, supernumerary teeth, small ears, short neck, atrioventricular septal defect, prominent epicanthal folds
• Associated with an increased risk of periodontal disease 
• Most common chromosomal abnormality 

Treatment: 

• No treatment necessary but speech, physical, occupational, and/or educational therapy can be good resources 

Neurofibromatosis Type I 

Presentation: 

• Autosomal dominant disorder 
• Café au lait pigmented macules and multiple neurofibromas

Key Facts: 

• Neurofibromas are benign neoplasms of Schwann cells and fibroblasts
• Also known as Von Recklinghausen’s disease
• Features also include axillary freckling (Crowe’s sign), enlarged mandibular foramina, Lisch nodules on iris, central nervous system tumors, seizures
• Neurofibrosarcoma is the most serious complication (malignant transformation of neurofibromas) 

Treatment: 

• Symptomatic management
• Tumors can be removed surgically if compressing tissue or organs
• If malignant tumors are present, surgery, radiation, or chemotherapy may be used 

Pierre Robin Sequence 

Presentation: 

• Autosomal dominant disorder
• Classic triad of micrognathia, glossoptosis, and airway obstruction

Key Facts: 

• Initial mandibular hypoplasia (micrognathia) causes posterior tongue displacement (glossoptosis) which then leads to airway obstruction
• Also associated with cleft palate, loss of hearing, ear infections, natal teeth 
• Increased incidence in twins 
• Commonly associated with Stickler syndrome  

Treatment: 

• Surgical repair of the cleft 
• Conservative management of breathing difficulties, assisted airway if significant airway compromise 

Treacher Collins Syndrome 

Presentation: 

• Autosomal dominant condition 
• Underdevelopment of the bones of the face, including the jaws (micrognathia) leading to breathing and feeding difficulties

Key Facts: 

• Often also have eyelid coloboma (absence of eyelids), condylar hypoplasia, mandibular retrognathia, down-slanted palpebral fissures, microtia (small ears), and hearing loss 

Treatment: 

• Surgery, consult with audiologist, speech therapy, orthodontics

DiGeorge Syndrome 

Presentation: 

• Autosomal dominant disorder caused by a deletion of a small segment of chromosome 22
• Defective development of the 3rd and 4th pharyngeal pouches with developmental delay, Tetralogy of Fallot (congenital heart defects), thymus gland dysfunction, chronic hypocalcemia, low set-ears, short philtrum, and cleft lip and/or palate

Key Facts: 

• Patients are more susceptible to opportunistic infections due to thmyus dysfunction
• CATCH 22 is a useful mnemonic for remembering this syndrome: Congenital heart defects, abnormal facies, thymic hypoplasia, cleft palate, hypoparathyroidism, deletion on chromosome 22

Treatment: 

• Multidisciplinary treatment to manage symptoms including antibiotics for infections, calcium supplements for hypocalcemia, ear tubes or hearing aids, occupational therapy, physical therapy, hormone replacement, surgery as needed 

Fetal Alcohol Spectrum Disorders 

Presentation: 

• Group of conditions that can occur due to maternal alcohol ingestion during pregnancy
• Often presents with intellectual disabilities, low body weight, short stature, and a decreased head size

Key Facts: 

• Variety of orofacial abnormalities such as a smooth philtrum, thin upper lip, and a hypoplastic maxilla
• Associated with higher incidence of cleft left/palate, a short neck, and ptosis of the eyelids

Treatment: 

• Early interventions can improve a child’s development

Apert Syndrome 

Presentation: 

• Autosomal dominant genetic disorder associated with craniosynostosis (early closure of cranial sutures)
• Patients are acrocephalic (tall skull) with syndactyly (fusion of fingers and toes) and a narrow palate and high arch

Key Facts: 

• An important distinction between Apert and Crouzon syndrome is that patients with Apert syndrome often have intellectual disabilities

Treatment: 

• Surgery to correct cranial sutures and later reconstructive surgery

Crouzon Syndrome 

Presentation: 

• Autosomal dominant genetic disorder associated with craniosynostosis
• Patients present with brachycephaly (short skull anteroposteriorly), midface deficiency or hypoplasia, frontal bossing (prominent forehead), hypertelorism (widely separated eyes), and proptosis/exophthalmos (bulging eyes) 

Key Facts: 

• Patients can also have a maxillary retrognathism and class III malocclussion

Treatment: 

• Surgery to correct cranial sutures and later reconstructive surgery 

Peutz-Jeghers Syndrome 

Presentation: 

• Autosomal dominant disorder 
• Polyp formation in the gastrointestinal tract and hyperpigmented macular lesions especially on lips and intraorally

Key Facts: 

• Patients are at an increased risk of developing gastrointestinal adenocarcinoma as well as malignancies in other organs such as the breasts, ovaries, and pancreas

Treatment: 

• No treatment but lifelong monitoring to screen for malignancies

Von Willebrand Disease

Presentation: 

• Autosomal dominant disorder with defective or decreased levels of Von-Willebrand factor and factor VIII
• Patients present with excessive bruising, bleeding, nosebleeds

Key Facts: 

• Type 3 Von Willebrand disease is considered the most severe form of the bleeding disorder due to the almost complete deficiency of factor VIII

Treatment: 

• Appropriate perioperative management is key in treating these patients to help prevent adverse bleeding events. 
• Desmopressin is a medication that stimulates the release of von Willebrand factor from platelets and endothelial cells

McCune Albright Syndrome

Presentation: 

• Disorder caused by a genetic mutation that presents with polyostotic fibrous dysplasia, cutaneous café-au-lait spots, and endocrine abnormalities

Key Facts: 

• Girls with this condition can experience early-onset puberty, and appear much more physically mature for their age when they are young.
• Fibrous dysplasia has a characteristic appearance of a radiopaque orange peel, ground glass, fingerprint or cotton wool lesion

Treatment: 

• Appropriate medicine to address symptoms associated with bone growth and early puberty

Patau Syndrome

Presentation: 

• Trisomy 13 where patients present with congenital heart defects, small malformed eyes, extra fingers and toes, and cleft lip/palate.

Key Facts: 

• Most infants do not live past their first week of life

Treatment: 

• Treatment is usually palliative and sometimes focused on improving feeding 

Edwards Syndrome

Presentation: 

• Trisomy 18 where patients present with small birth size, heart defects, hypertelorism, intellectual disability, club (rocker bottom) feet, and clenched fists

Key Facts: 

• Manifestations of this syndrome are severe and those afflicted often die before birth or soon after

Treatment: 

• Treatment is usually palliative 

Klinefelter Syndrome

Presentation: 

• An XXY genotype 
• Hypogonadism, infertility, gynecomastia, and reduced testosterone level

Key Facts: 

• About 40% of patients have taurodontism

Treatment: 

• Testosterone replacement, speech and language therapy during development

Marfan Syndrome

Presentation: 

• Autosomal dominant connective tissue disorder 
• Aortic aneurysms, long extremities, joint hypermobility (including the TMJ), and subluxation of the lens of the eye

Key Facts: 

• Elastin is heavily altered because of this, with cardiovascular, musculoskeletal, and ocular effects 

Treatment: 

• No definitive treatment but symptomatic management 

Achondroplasia

Presentation: 

• Genetic condition where patients demonstrate dwarfism in which the limbs are short while the trunk remains relatively normal

Key Facts: 

• Characteristic craniofacial findings include maxillary hypoplasia and a shortened cranial base, which contribute to a class III malocclusion
• Most common type of dwarfism

Treatment: 

• No definitive treatment but symptomatic management, surgery, and hormone therapy are possible

Van der Woude Syndrome 

Presentation: 

• Autosomal dominant genetic disorder characterized by central lower lip pits, congenitally missing teeth, and narrow palate 

Key Facts: 

• Most common genetic syndrome associated with cleft lip and palate

Treatment: 

• Similar treatment to surgical repair of cleft lip and cleft palate
• Lip pits are often surgically corrected during the repair of clefts 

Hemifacial microsomia 

Presentation: 

• Poor vascularization of the first and second pharyngeal arches during the first trimester 
• Facial deformities consisting most commonly of an underdeveloped ears, mouth, and mandible

Key Facts: 

• Second most common craniofacial birth defect after cleft lip and palate
• Most common unilateral
• Most common on the right side 

Treatment: 

• Multidisciplinary treatment including various surgeries, extractions, prosthodontics 

Turner Syndrome

Presentation: 

• Females with 45, XO karyotype (one X chromosome missing) presenting with short stature, bicuspid aortic valve, webbed neck, and high arched palate

Key Facts: 

• Hypogonadism, developmental problems, infertility, and certain learning disabilities are also associated with this syndrome 

Treatment: 

• No cure but symptomatic management and hormone therapy are often used  

Sickle Cell Anemia 

Presentation: 

• Autosomal recessive blood condition which causes crescent moon-shaped red blood cells, swelling of extremities, episodes of pain during vaso-occlusive crises

Key Facts: 

• Hair on end appearance of the skull is a characteristic feature of chronic hemolysis usually seen in patients with this condition
• Interproximal alveolar bone step ladder patterns seen on radiographs 
• May experience tonsillitis and adenotonsillar hypertrophy which can lead to airway obstruction and obstructive sleep apnea 
• Most common in Black Americans

Treatment: 

• No cure but symptomatic management and hormone therapy are often used  

Papillon Lefèvre syndrome

Presentation: 

• Autosomal recessive condition presenting as palmoplantar hyperkeratosis, aggressive inflammation of the periodontium

Key Facts: 

• Extremely early loss of both the primary and permanent dentitions due to inflammation, most permanent teeth can be completely lost as early as age 16.

Treatment: 

• Early referral to a pediatric dentist, prosthodontics to replace missing teeth 

Cystic fibrosis

Presentation: 

• An autosomal recessive condition caused by a mutation of a gene that is responsible for a protein channel that transports chloride in mucus membranes presenting with mucous in the lungs that becomes thick and sticky

Key Facts: 

• Other symptoms include shortness of breath, wheezing, coughing, frequent respiratory infections, and pancreatic insufficiency
• Caused by a mutation of the CFTR gene on chromosome 7

Treatment: 

• No cure but symptomatic management can improve quality of life  

Thalassemias

Presentation: 

• Genetic blood disorder that reduces the production of hemoglobin resulting in anemia

Key Facts: 

• Alpha thalassemia major

• Caused by four defective alleles of the alpha globin, it is incompatible with life and results in hydrops fetalis

• Beta thalassemia major

• Patients have defects in both of their genes and present with an enlarged spleen and liver requiring treatment

• Alpha thalassemia minor and beta thalassemia trait

• Alpha thalassemia minor and beta thalassemia trait are generally asymptomatic with minor occasional symptoms

Treatment: 

• Patients with beta-thalassemia major may require splenectomy, gallbladder removal, and regular blood transfusions

Behcet’s disease

Presentation: 

• Systemic vasculitis presents with combination of chronic ocular inflammation and ulcerations in the oral cavity and on the genitals 

Key Facts: 

• Oral ulcers develop in the soft palate and oropharynx
• Blindness commonly develops in these patients 

Treatment: 

• Oral lesions can be treated with tetracycline rinse or topical steroids 

Sturge Weber Syndrome

Presentation: 

• Congenital condition classified by vascular malformations along the distribution of the trigeminal nerve, characteristic red/purple lesions (port wine stains) usually limited to one side of the face

Key Facts: 

• Patients can also present with intellectual disabilities and seizures, can be associated with lymphangiomas

Treatment: 

• Symptomatic management, lesions can be treated with laser, seizures managed with anti-convulsants

Hereditary Hemorrhagic Telangiectasia 

Presentation: 

• Autosomal dominant genetic condition presenting with vascular dysplasias throughout the body, including arteriovenous malformations and mucocutaneous red macules or papules due to broken capillaries on the nose, fingers, sun-exposed skin, and lips

Key Facts: 

• Also known as Osler-Weber-Rendu syndrome 
• Can also present with chronic nose and gastrointestinal bleeds which can lead to anemia 

Treatment: 

• Medication and other management techniques to manage bleeding and anemia 

Melkersson Rosenthal Syndrome 

Presentation: 

• Neurological disorder that can result in recurrent facial paralysis, granulomatous swelling of the lips and face, and a fissured tongue

Key Facts: 

• Usually the first episode of edema will resolve within hours or days, and may resemble angioedema, but is usually more resistant to treatment with an antihistamine
• The cause is not well understood 
• A good mnemonic to remember the symptoms is to think of “Mells Bells” and “Rosy Red”

• “Mells”= Melkersson; “Bells”= Bell’s palsy (facial paralysis).
• “Rosy”= Rosenthal; “Red”= Red lips from granulomatous cheilitis.

Treatment: 

• Symptomatic management can include NSAIDs, steroids, and antibiotics 

Angelman Syndrome 

Presentation: 

• Genetic disorder that results in severe intellectual disability, ataxic gait, happy disposition, inappropriate laughter, limited speech ability, sleep problems, and seizures

Key Facts: 

• Symptoms often become evident in childhood, but outbursts of laughter and excitability may decrease with age

Treatment: 

• Symptomatic management can include anti-convulsants, physical therapy, speech therapy

Fragile X Syndrome

Presentation: 

• Genetic disorder that results in intellectual disability and abnormal facial features such as elongated face, wide set ears, and a high palatal vault

Key Facts: 

• Symptoms are usually worse in males than females
• Patients may also have speech delay, anxiety, and seizures

Treatment: 

• No cure but symptomatic management that can include physical, speech, and occupational therapy

Hemophilia 

Presentation: 

• Inherited sex-linked bleeding disorder presenting with frequent nosebleeds and bruising from minor trauma

Key Facts: 

• Hemophilia A: Deficiency of factor VIII
• Hemophilia B: Deficiency of factor IX
• Hemophilia C: Deficiency of factor XI

Treatment: 

• Replacing missing blood clotting factor 

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