Etiology:

AD – mutation in adenomatous polyposis coli (APC) gene – located on chromosome 5q21

Clinical:

Triad:

• Potential malignant colorectal polyposis
• Skeletal abnormality – multiple osteoma
• Multiple impacted teeth, supernumerary teeth and odontomas

Diagnosis:

• Blood test – APC gene mutation
• Osteomas and impacted teeth found on radiograph – do lower GIT endoscopy for colon polyps

Management:

• Alleviate symptoms
• Surgical excision of osteomas

Etiology:

AR – Familial aplastic anemia

Clinical:

• Kidney tubule dysfunction – no reabsorption. Glucose, bicarbonate, phosphorous, uric acid, potassium increased excretion in urine
• Strabismus
• Low set ears
• Hypopigmentation
• Abnormal or absent thumbs
• Dental anomalies
• Increased predisposition to squamous cell carcinoma

Management:

• Bone marrow replacement

Etiology:

Mutations lead to:

• Defect in collagen and procollagen structures
• Defective collagen synthetic enzymes

Clinical:

Hyper elasticity of skin and joints, fragile blood vessels

1. Systemic:

• Bleeding tendencies
• Poor wound healing
• Rupture of vital organs

2. Skin:

• Excess skin on palm and toes
• Subcutaneous fatty cysts
• Molluscoid pseudotumors

3. Oral:

• Enamel hypoplasia
• Severe PDL disease
• Dislocation of TMJ

4. Eyes:

• Ectopic lentis (displaced lens)

NB: Patients who cannot metabolize copper suffer from this disease

Etiology:

Trisomy 21:

• Non-disjunction (94%)
• Translocation
• Mosaicism

Risk increases with mothers age

Clinical:

1. CVS:

• Ventricular septal defect
• AV communication
• Persistent ductus arteriosus
• Mitral valve prolapse
• Teratology of Fallot:
  • Pulmonary valve stenosis
  • Ventricular septal defect
  • Overriding aorta
  • Right ventricular hypertrophy

2. CNS:

• Delayed motor function
• Early aging
• Mental retardation
• Dementia

3. Eyes:

• Epicanthic folds
• Convergent strabismus
• Nystagmus (involuntary eye movement)
• Refractive errors
• Keratoconus (conical cornea)
• Cataracts
• Ocular hypertelorism

4. Oral:

• High palatal vault
• Insufficient soft palate
• Macroglossia
• Mouth breathing
• Delayed eruption
• Hypodontia
• Microdontia
• Malocclusion

5. Immunity:

• Impaired
• Neutrophil defects
• Thyroid dysfunction
• Increased risk of ALL (Acute lymphocytic leukemia)

6. Musculoskeletal:

• Underdeveloped maxilla and sphenoid
• Prognathic mandible
• Rib and pelvic abnormalities
• Subluxation of patella
• Simian palmar crease

Diagnosis:

In utero:

• Ultrasound
• Amniocentesis
• Chronic villus sampling
• Blood test
• Nuchal translucency test

New born:

• Blood test – chromosomal karyotype

Management:

Regular reviews for; CVS, audiologic, ophthalmologic, dental

Etiology:

• AD – missense mutation in FGFR2 gene
• Premature fusion of cranial sutures – increased intracranial pressure – therefore prevents skull from growing normally and affects shape of head and face

Clinical:

Cranial deformities:

• Frontal bossing
• Premature fusion of coronal suture
• Brachycephaly
• ‘Hammered silver’ appearance of skull

Facial malformations:

• Maxilla hypoplasia
• Mandible prognathism

Dental deformities:

• High arched palate
• Peg laterals
• Partial anodontia

Eye deformities:

• Exophthalmos
• Divergent strabismus
• Blindness
• Neuritis
• Hypertelorism

Others:

• Spina bifida occulta

Management:

• Surgical
• Orthodontic treatment

Etiology:

Many contributing risk factors: Genes & environment

• Genetic predisposition
• Syndromes associated with cleft li and palate
• Nutrition: iron, zinc, folic acid, B12 deficiency
• Drugs: phenytoin, valproic aid
• Alcohol
• Maternal smoking
• Stress and disturbance during development

Cleft lips: Failure of medial & lateral nasal process to be penetrated by epithelial cells during 6th week in utero.

Cleft palate: Lack of lateral palatal segment fusion – ingrowth of mesoderm – and epithelial breakdown during 8th week in utero

Results in – Mastication, speech, deglutition defect

Veau classification:

Cleft lips:

Cleft palate:

Diagnosis:

• Ultrasonography for baby in utero

Management:

• Lip surgery
• Palate repair – before speech development (1 and half years age)
• Speech therapy
• Alveolar bone grafting
• Orthodontic treatment
• Orthognathic surgery (jaw exercise)

NB:

• Age 1-3 months – Lip taping and naso-alveolar molding
• Age 3 months – Repair of cleft lip
• Age 9-12 month – Repair of cleft palate
• Age 1-7 years – Orthodontic treatment
• Age 7-8 years – Alveolar bone graft
• 18 years old or skeletal maturity – Midface advancement, continued orthodontic treatment

Rule of 10’s:

• Weight ≥ 10 pounds
• Hemoglobin ≥ 10 mg/dl
• Age ≥ 10 weeks

Associated syndromes:

• Apert syndrome
• Pierre Robin syndrome
• Treacher Collin syndrome

Van der Woude syndrome

• Lower lip pits in patient with cleft lip and palate
• AD
• Mutations in interferon regulatory factor 6 gene (IRF6)
• Associated features:
  • Hypodontia
  • Molar incisor hypomineralization
  • Ankyloglossia (tongue tie)
  • Syndactyly (webbed fingers)

Picture

• Genetic and fibro-osseous disease
• Developmental jaw condition
• 100% penetrance in male, 50-75% in female (M:F = 2:1)
• Mean age 7 (1 – 12 years age)

Etiology:

• AD – mutation of SH3BP2 on chromosome 4
• Hyperactive macrophages and osteoclast – lead to bone loss and inflammation

Clinical:

• Teeth displaced and loose
• Painless bilateral expansion of mandible and maxilla (starts at 2-4 years)
• Therefore ‘cherubic’ exposure of sclera

Diagnosis:

X-ray:

• Multilocular expansile radiolucency – soap bubble appearance (ie. multilocular cysts)
• Opacification of sinuses

Histology:

• Vascular fibrous tissue with multinucleated giant cells
• Bone formation progresses as lesion matures

Serology:

• Normal calcium and phosphorus levels (to differentiate from Brown’s tumor)
• Increased alkaline phosphatase (due to increased bone turnover)

Management:

• Involution after puberty
• Surgery if persistent bone deformity

Differential diagnosis:

• Giant cell granuloma (differentiate with x-ray)
• Brown’s tumor (differentiate with calcium phosphate levels)
• Osteoclastoma (aggressive)

Picture

Etiology:

• AD – microdeletion defect of transcription factor (CBFA-1) in chromosome 6
• Failure in intramembranous & endochondral ossification

Clinical:

Clavicle:

• Aplasia/ hypoplasia of 1 or both clavicles

Skull:

• Enlarged transverse diameter of cranium
• Short sagittal diameter of cranial base
• Delayed closure of fontanelles & sutures
• Wormian bones in suture lines

Teeth:

• Multiple supernumeraries
• Retrusion of maxilla
• Delayed eruption of permanent teeth

Diagnosis:

Radiograph:

Clavicle:

• Aplastic/ hypoplastic

Skull:

• Patent fontanelles & wormian bones
• Broad cranial sutures
• Underdeveloped nasal sinuses

Teeth:

• Multiple, unerupted supernumeraries

Histology:

• Teeth lack 2ry cementum (cellular cementum at apical two thirds)

Management:

• Protect with headgear in early life (open fontanelles)
• Surgical exposure of unerupted teeth + orthodontic therapy
• Orthognathic surgery
• Prosthesis

Usually in menopausal women

Clinical:

• Pain and burning sensation in mouth
• Dysgeusia (altered taste)
• Xerostomia

Diagnosis & treatment:

1. Candidiasis – Brush/ incisional biopsy – Antifungals
2. Xerostomia – Drug/ anxiety history – Oral lubricants
3. Nutritional deficiency – Levels of vitamin B, iron, zinc – Dietary supplements
4. Abnormal tongue habit – History – Topical corticosteroids
5. Depression – Psychiatry – Tricyclic antidepressants
6. Pernicious anemia – Specialist
7. DM – Specialist
8. Hormonal imbalance – Specialist

Silk road disease

Etiology:

• Autoimmune – multisystemic disease
• Human leukocyte antigen HLA-B51

Clinical:

• Recurrent orogenital ulcers
• Pustular skin lesions
• Ocular complications