Developmental disorders of orofacial structures

Orofacial Clefts

• Cleft Lip (CL)

• Cleft Palate ( CP )

• Cleft Lip with Cleft Palate (CL + CP)

• Lateral Facial Cleft

• Oblique Facial Cleft

• Median Cleft of upper lip

• Median Maxillary anterior alveolar cleft.

Etiology

• Genetic abnormalities• Inherited• Spontaneous mutation

• Environmental factors• Nutritional Deficiency • Cigarette smoking• Drugs, radiation.• Amniotic bands

Cleft Lip and Palate

• Most common among the facial clefts.• Cleft is a division or separation of parts of

the lip or palate that is formed during the early months of development of the fetus.

• Clefts may be unilateral or bilateral.• They can vary in severity.• 3-8% of clefts are associated with

syndromes

Unilateral incomplete cleft lip

Unilateral Complete Cleft lip

Bilateral Complete Cleft Lip

Frequency of Occurrence

• In whites,CL ± CP occur in 1 of every 700-1000 births

• In Asians,prevalence is 1.5 times higher.• In African Americans,less than 0.4 in 1000.• in Native Americans fequency is 3.6per 1000birth • Incidence of clefts is highest in Native American

population and lowest in African Americans

Frequency of occurrence

• Isolated Cleft Lip : 25%

• Isolated Cleft Palate : 30%

• Cleft Lip + Cleft Palate : 45%

• CL ± CP : more common in males.

• For isolated CL , M : F = 1.5 : 1

• For CL + CP, M : F = 2 : 1

• Isolated CP is more common in females.

Location

• Cleft Lip is more commonly unilateral (80%)

• 70% of cleft lips on left side.

• Complete CL extends upward into nostril.

• CP may involve hard and soft palate or soft palate alone.

• Cleft or Bifid Uvula is more common.

• Bifid Uvula:

• Whites: 1 in 80

• Asian and Native American: 1 in 10

• African Americans: 1 in 250

• Submucous palatal cleft : surface mucosa is intact but underlying musculature of soft palate is defective.

Complete cleft palate

Bifid uvula

Submucous palatal cleft

Pierre Robin Syndrome

• Triad of :• Mandibular micrognathia

• Glossoptosis

• Cleft Palate.

Bird facies

Problems associated with clefts

• Esthetic disfigurement

• Difficulty in breathing ,feeding and speech

• Malocclusion.

• Psychosocial problems.

• Recurrent upper respiratory tract infections.

Treatment

• Multidisciplinary approach

• Plastic surgery, Dentistry,Otolaryngology,Audiology,speech pathology,Genetics and Pediatrics

• SURGICAL REPAIR.

Cleft lip repair

• Objective: Closure of cleft to create a pleasing face that will develop normally with minimum scarring

• Performed by plastic surgeon when baby is approx. 3 months of age and weighs atleast 10 lbs.

• Surgery under GA( takes approx 2-3 hours)• Special considerations in positioning and

feeding.• Takes approx. 3 weeks for the wound to

gain enough strength.• The lip scar is initially red and swollen but

begins to mature and improve in appearance in 6-12 months.

• In Bilateral cleft lip , repair in stages.• In alveolar cleft, bone graft required ( 5-10

yrs)

Cleft palate repair

• Objective: To close the palate to restore normal function of eating and drinking and to enhance the development of normal speech.

• Best accomplished in one surgical procedure before the child reaches 12-14 months of age.

Pierre Robin syndrome

• Infant placed in prone position until adequate growth of jaws occur.

• Tongue- Lip adhesion/Tracheostomy

• Mandibular bone expansion- Distraction Osteogenesis with an expansion device.

Distraction osteogenesis

After removal of the expansion device

Late cleft treatment

• Cleft palate surgery

• Intensive speech therapy regimen

• Orthognathic surgery.

• Orthodontic correction.

Genetic counseling

• In Non syndromic cases, risk of Cleft development in a sibling or offspring is 3-5% if no other first degree relative is affected. It increases to 10 – 20 % if another first degree relative is affected

Developmental disorders of Lips

• Lip Pits:• Para median Lip Pits

• Commissural Lip Pits

• Double Lip

Paramedian Lip Pits

• Rare• Autosomal dominant

inheritance• Persistence of lateral

sulci on embryonic mandibular arch

• Bilateral symmetric fistulas on either side of the midline

Paramedian Lip Pits

• Appearance varies from subtle depressions to prominent humps.

• Pits can extend to a depth of 1.5 cm and may express salivary secretions

• Seen in Van der Woude syndrome with CL±CP

• Surgical excision for cosmetic reasons

Commissural Lip Pit

• Small mucosal invaginations at corners of the mouth on vermilion border.

• Failure in the normal fusion of maxillary and mandibular processes during development

Commissural Lip Pit

• Seen in 12-20 % of adult population.

• Males > Females• Unilateral / Bilateral• May be associated

with preauricular pits• No treatment required

Double Lip

• Rare• Redundant fold of

tissue on the mucosal side of the lip.

• May be Congenital or acquired( from trauma or oral habits such as lip sucking)

Double lip

• More common in upper lip

• Sometimes both lips affected

• Seen on smiling.

• Feature of Ascher’s syndrome

Ascher’s syndrome

• Triad of :• Double lip

• Blepharochalasis

• Nontoxic enlargement of thyroid gland

Developmental disorders of tongue• Macroglossia• Microglossia• Ankyloglossia• Lingual Thyroid• Median Rhomboid glossitis• Benign Migratory glossitis• Hairy Tongue• Bifid tongue• Fissured tongue• Lingual Varices

Macroglossia

Causes

• Congenital:• Haemangioma

• Lymphangioma

• Cretinism

• Down syndrome

• Beckwith Weidemann Syndrome

• Neurofibromatosis

• Hemi hyperplasia

• Acquired:• Amyloidosis

• Myxoedema

• Acromegaly

• Angioedema

• Carcinoma and other tumours

• Edentulous state

Differentiating features

• Cretinism and Beckwith Weidemann Syn:

• Smooth, diffuse generalized enlargement

• Lymphangioma:

• Pebbly appearance with multiple vesicle like blebs

• Amyloidosis, Neurofibromatosis:

• Multinodular appearance

Differentiating features

• Down Syndrome:

• Papillary fissured surface

• Hemifacial Hyperplasia, Neurofibromatosis:

• Unilateral enlargement

• Edentulous:

• Lateral spreading of tongue.

Microglossia

• Oromandibular- limb hypogenisis syndrome

• Frequently Seen along with hypoplasia of mandible

Ankyloglossia

Anomaly characterized by short thick lingual frenum resulting in restriction in tongue movement.

Sever case tongue fused to floor of mouth

Frenum some time attached to tip of the tongue

Ankyloglossia

• Seen in 2-5 % of the population

• Males > Females• May be partial or

complete• May cause speech

defects.• Surgery if the

anomaly is severe

Lingual Thyroid-origin

• Failure of primitive thyroid gland to descend into the neck during development.

• About 10 % of both men and women may show thyroid tissue if biopsy is taken from posterior part of tongue.

Lingual Thyroid-Clinical features

• Symptomatic and clinically evident lingual thyroid seen less commonly.

• 4 - 7 times more common in females

• May cause dyspnoea, dysphonia, dysphagia

Lingual Thyroid-Diagnosis

• In 70% of cases this ectopic gland is the patient’s only thyroid tissue.

• Thyroid scans using Iodine isotopes or technetium 99m

• CT and MRI to know the size and extent

Lingual Thyroid-Treatment

• Asymptomatic patients:• No treatment, Periodic follow up• Symptomatic patients:• Suppressive therapy with thyroid supplements• In case of airway obstruction,surgery with auto

transplantation to another body site.• In males over 30 years ,prophylactic surgical

excision as there is a risk of malignancy.

Median Rhomboid glossitis

Benign Migratory glossitis

Hairy Tongue

• Accumulation of keratin on the filiform papillae may be due to increased production of keratin or decrease in the normal keratin desquamation

• Etiology

• Antibiotic therapy

• Poor oral hygiene

• General debilitation

• Radiation therapy

• Use of oxidizing mouth wash or antacid

• Overgrowth of fungus or bacterial organism

• Histopathology- it is characterized by marked elongation and hyper keratosis of filiform papillae

Fissured Tongue

• Multiple grooves and furrows on the surface of the tongue

• Strong association noted between geographic tongue

• Seen some time in Melkersson Rosenthal syndrome

Lingual Varices

• Abnormally dilated and tortuous veins

• Seen in 2/3rds of people older than 60 years of age(indicating age related degeneration )

• Asymptomatic

Developmental disorders of the jaws

• Exostoses and Tori

• Hemifacial atrophy

• Hemifacial hypertrophy

• Condylar hypertrophy

• Coronoid hypertrophy

• Mandibular aplasia

Mandibular Torus

Palatine Torus

Hemifacial Atrophy

Hemifacial hypertrophy

Condylar hypertrophy

Coronoid hypertrophy

Mandibular aplasia

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