Developmental abnormalities affecting the face

Question 1

What is ‘treacher collins syndrome’?

Answer 1

(Mandibulofacial dysostosis):
Is a type of FIRST ARCH SYNDROME.

Question 2

What causes TC syndrome?

Answer 2

Caused by mutations in the
‘Treacle’ (TCOF1) gene.
• The gene encodes a protein that
may be involved in nucleolarcytoplasmic
transport.
• It is inherited (autosomal
dominant)
• Can vary in severity from generation to generation and person to
person

Question 3

What symptoms may a patient with TC have?

Answer 3

• Outer part of ears are abnormal (dysplastic) or almost completelymissing (Hypoplasia) and auricular tags
• Choanal atresia (blocking of nasal canal),
• Hearing loss
• Micrognathia (very small jaw)
• Very large mouth (macrostomia) or microstomia
• Coloboma (defect in lower eyelid)
• Scalp hair that reaches the cheeks
• Cleft palate
• Tracheoesophageal fistula
• Anal atresia
• Cardiac defects

Question 4

What are the signs and tests associated with TC?

Answer 4

• Usually shows normal intelligence
• Abnormal eye problems
• Flat cheekbones (malar region)
• Clefts in the face
• Small jaw
• Low-set ears, abnormal ears, abnormal ear canal (atresia), hearing loss, downward slanting palpebral fissures and coloboma, decreased eyelashes on lower lid.
• Genetic tests can help identify gene changes linked to the condition.

Question 5

What treament is there for TC?

Answer 5

• Hearing loss is treated to ensure better performance at school –
• cochlear implants.
• Good plastic surgery very important because children often need a series of operations to correct birth defects such as receding chin/ micrognathia.
• It can interfere with infant’s feeding
• Can be reason for abnormal alignment of the teeth; not enough room
• for teeth to grow.
• Usually treated with 2-3 operations starting in second decade of life.

Question 6

What is the prognosis for TC?

Answer 6

Children usually grow to be normal adults with normal intelligence

Question 7

What is Goldenhar Syndrome (hemifacial microstomia)?

Answer 7

Incomplete development of ear, nose, soft palate, lip &
mandible and is usually asymmetric.

Question 8

What is Nager Acrofacial Dystosis?

Answer 8

Involves underdevelopment of cheek and jaw, downsloping of eyes, lack/absence of lower eyelashes.

Question 9

What is a cleft palate and lip?

Answer 9

Cleft: ‘fissure’ or ‘gap’.
Affects approximately 1 in 700 babies.

• Cheiloschisis (lip) and palatoschisis (palate). Can occur together or on
their own. Caused by abnormal facial development during gestation.
Non-fusion of body’s natural structures before birth.
• Foetus completely formed after 2 months – cleft lip/palate can be
diagnosed then.
• Site of the cleft corresponds to the lines along which the embryonic
processes fuse together.
• Cleft lip is due to a failure of fusion of the maxillary & medial nasal
processes (formation of primary palate).
• Cleft palate is when the two plates of the skull that form the hard palate
are not completely joined. Soft palate also cleft. In most cases, cleft lip
is also present. Uvula usually split. Due to failure of fusion of lateral
palatine processes, nasal septum & median palatine processes
(formation of secondary palate

Question 10

What is craniosynostosis?

Answer 10

Fontanels close too early causing problems with brain/skull growth.

Question 11

What is pierre robin syndrome?

Answer 11

Hypoplasia of mandible/cleft palate/eye and ear defects/
microagnathia.

Question 12

What is digeorge syndrome?

Answer 12

Absence of thymus/parathyroid glands.

Disturbance of cervical neural crest migration

Question 13

What is kabuki syndrome?

Answer 13

Long palpebral fissures with eversion of the lateral third
of the lower eyelids, a broad and depressed nasal tip,
large prominent earlobes, a cleft or high-arched palate