High-Yield Conditions to Know for the INBDE
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Hey, I'm Joel 👋. I'm a University of Toronto DDS grad, dentist, and longtime test prep educator. I'm here to help you succeed!

Dr. Joel Meyerson
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Table of Contents
    Key Takeaway

    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 Lip

    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  
    Lip Pits

    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 
    Lingual thyroid

    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
    Amelogenesis imperfecta xray

    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 
    Cleidocranial dysplasia
    Cleidocranial dysplasia xray

    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
    Ectodermal dysplasia

    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 
    Dentin dysplasia Type I and II

    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
    Cherubism

    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
    Gardner Syndrome

    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, 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 
    Cafe au Lait in Neurofibromatosis Type I 

    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 
    22

    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
    Craniofacial features asociated with feat

    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
    Apert Syndrome

    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 
    Crouzon Syndrome

    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 
    Marfanoid Body Habitus

    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
    Achondroplasia

    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 
    Van der Woude Syndrome

    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 
    Hemifacial microsomia

    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  
    Tu

    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  
    Sickle Cell Anemia (H

    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
    Sturge Weber Syndrome

    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 
    Hemophilia in Cloting

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