Cleft palate team / genetic disorders

Etiologies of Cleft; What causes the embryonic fusion failure in patients with clefting?

• genetic disorders

• chromosomal aberrations

  • down syndrome/trisomy 13

• teratogenetically induced disorders (environment)

• mechanically induced abnormalities (what happened when growing)

Genetic Disorders

• clefting associated with 400 multiple anomoly syndromes (combination of symptoms)

  • Pierre robin sequence

  • treacher collins

  • apert syndrome

  • velocardiofacial

Genetic disorders (pierre robin)

• Micrognathia (underdeveloped mandible)

  • Interferes with the descent of tongue and palatal shelf fusion- 8-9^th week

• Retracted/elevated tongue into pharyngeal airway

• Isolated cleft of hard or soft palate

• Congenital heart problems

• Digital anomalies

  • (longer or shorter fingers or webbing)

• Conductive hearing loss

  • malformation of the ear canal

• Developmental deficits

  • language deficits

*notes: artic issues b/c of tongue, tongue interferes with palatal fusion, no lip involvement, webbing/extra digit, malformation of ear canal, lang/speech issues

Genetic Disorders (treacher collins)

• Malar hypoplasia (underdevelpment of cheek bones),

• Underdevelopment of mandible, external ear and canal

• Conductive hearing loss

• Cleft palate

• Small stature

• Broad, flattened nose

Notes* no developmental, mostly aesthetic, hearing loss / cleft palate, pinna smaller / malformed (NO zygomatic arch)

Genetic Disorders (velocardiofacial syndrome)

• Heart problems

• Broad, flattened nose

• Language and learning deficits

• cleft of palate

Genetic disorders (apert syndrome)

• Craniosynostosis (premature closing of the sutures of the skull)

• Syndactyly (webbing of fingers and toes with bone fusion)

• Palate is high and narrow  (appearance of cleft)

• Conductive hearing loss

• Expressive language delay

Notes* malformation of the ear canal, expressive lang (oral cavity, palate, hearing), wide set eyes

Chromosomal Aberrations

• 46 chromosomes arranged in 23 pairs (normal)

• Trisomy 13-

  • Cleft lip with or without cleft palate (60-70% of cases)

  • Appearance of a third #13 chromosome

  • Multiple congenital anomalies are present (birth defects)

Teratogenically Induced disorders

• Agents that interrupt normal development of a fetus and create congenital malformations.

  • Drugs 

    • Dilantin (anti convulsive)

    • Thalidomide (sedative)

    • Aspirin

    • Nontopical acne medication

  • X-rays (radiation)

  • Viruses

  • Alcohol

  • Nicotine

  • Caffeine

• *ingested, hormones (birth control etc.,)

Mechanically Induced Abnormalities

• Impingement on the embryo directly

  • Amniotic rupture

  • Intrauterine crowding (twins)

  • Uterine tumor

  • Irregularly shaped uterus

  • (car accident abuse)

Incidence of clefting

• 1 in every 750 births

• Cleft of lip with or without cleft of palate occur more than cleft of palate alone.

• 1 in every 1,200 births- submucous cleft

• Increasing the genetic pool of clefting?

  • Adults who have a cleft and are treated successfully

  • Improved postnatal treatment

sex and racial differences

• Sex:

  • Occurs 2x’s as frequently in males and more severe clefting

  • Cleft of palate alone- more frequent in females

  • Submucous clefting- same frequency in males and females

• Racial Differences:

  • Native Americans- Highest incidence

  • Asian

  • White

  • African American- Lowest incidence

Cleft palate team

• Craniofacial team

  • Integration of information among professionals

  • Family may see several specialists in one appointment

  • All aspects of care in one setting

  • One contact for emergency (RN)

  • Needs of a patient changes with the lifespan

Members of team: physicians/medical

• Anesthesiologist

• Nurse practitioner

• Plastic Surgeon

• Oral Surgeon

• orthodontist

• Audiologist

• Otolaryngologist

• Endodontist

• Periodontist

• Pediatrician

• Prosthodontist

• Geneticist

Anesthesiologist

Concentrate on the care of surgical patients and pain relief.

Audiologist

Assess hearing

Coordinator

Responsible for the coordination of care for the patient in collaboration with other members of the cleft palate team.

Educator

Helps to inform the family throughout the process.

Endodontist

Root canal specialist

Geneticist

Screens patients for craniofacial syndromes.

Genetic Counselor

Talks to parents about having more children with this problem.

Nurse practitioner

Helps with feeding problems.

Oral surgeon

Works closely with our orthodontists and other surgeons to improve facial function and appearance.

Orthodontist

A dentist who evaluates the position and alignment of your child's teeth and coordinates a treatment plan with the surgeon and other specialists.

Otolaryngologist

Ear nose and throat doctor. A physician who will assist in the evaluation and management of ear infections and hearing loss that may be side effects of your child's cleft abnormality.

ENT (endoscopy, surgical intervention, tonsils, adenoid removal)

Pediatrician

A physician who will follow your child as he/she grows and help coordinate the multiple specialists involved.

Periodontist

• Diagnosing, preventing and treating gum disease. They can also place dental implants as well as perform cosmetic periodontal treatments.

• dentures/molds

plastic surgeon

A surgeon with specialized training in the diagnosis and treatment of skeletal abnormalities of the skull, facial bones, and soft tissue; will work closely with the orthodontists and other specialists to coordinate a surgical plan.

Prosthodontist

Skilled in the replacement of missing teeth and the restoration of natural teeth.

• crowns / veneer

psychiatrist

• A physician who assesses the psychosocial function and behavioral development of your child. The psychiatrist will assist the family in identifying therapy resources and coordinates referrals with the social services department.

radiologist

• a physician who reads and interprets digital images, or x-rays, of patients obtained through a variety of cameras, machines, and imaging equipment. uses this information to help diagnose the patient and consult with the treating physician to develop a course of treatment.

social worker

A professional who provides guidance and counseling for your child and your family in dealing with the social and emotional aspects of a craniofacial.