Cranial Facial Syndromes

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Cranial facial Syndromes

• Crouzon/ apert/ Pfeiffer
• Treacher Collin syndrome
• Pierre Robin Syndrome
• Stickler syndrome
• Goldenhar syndrome

1^st branchial arch

• Precursor of maxilla and mandible
• Muscles/ nerves  of mastication (V)
• Ear formation

1^st branchial arch defects

• Crouzon syndrome/ apert syndrome
• Treacher Collins syndrome

2^nd Branchial arch

• Ear formation
• Muscles/nerves  of facial expression

1^st + 2^nd Branchial arch defects

• Goldenhar Syndrome

TREACHER COLLINS SYNDROME

‘absent cheek bone’

• Similar to Crouzon/apert syndrome (no exophthalmos)
• AD inheritance
• Intelligence normal
• +/- facial nerve affected

General

• Looks well

Around Bedside

• Hearing aids/glasses

Dysmorphic features

• PROMINENT FEATURES

Head

• +/- brachcephaly

Eyes

• Down-slanting palpebral fissures
• Drooping of the lateral lower eyelid
• Squints
• Coloboma/ aplasia of lower lid lashes
• +/- hypertelorism

Ears

• Low set / malformed/absent ears/ preauricular  sinuses
• Hearing problems

Face

• Micrognathia
• Hypoplastic maxilla

Mouth

• Lip/ Cleft palate

Neck

• +/- tracheostomy
• Scar

Limbs

• Fusion of radius + ulnar

To complete my examination

• Plot height/weight/ head circumference
• Cranial nerve examination  (VII)
• Respiratory/ ENT examination – OSA/airway problems (tracheostomy)
• CVS – VSD
• Formal hearing assessment

GOLDENHAUR SYNDROME

Mode of inheritance not known

1^st and 2^nd Branchial arch defects

General

• Well

Around bedside

• Hearing aids/glasses

Dysmorphic features

• PROMINENT FEATURES: facial asymmetry + hemi-facial microsomia

Head

• Frontal bossing

Eyes

• Epibulbar dermoid
• Coloboma

Ears

• Low set ears/ +/- abnormal position (angle of mandible)
• Malformation/abnormal outer ear
• Hearing problems

Nose

• Poorly developed nostrils

Face

• Asymmetry of the face +/- hemi facial microsomia

Mouth

• Lip/cleft palate

Neck

• Short neck (Fused verbebrae)

Associated with renal and cardiac abnormalities

Associated with vertebral anomalies (synostosis, spina bifida, hemi-vertebrae)

+/- Mental retardation

To complete my examination

• Plot head circumference/ height/ weight
• CVS/ renal examination
• Formal hearing assessment

Causes of Micrognathia

1. Treacher Collin syndrome
2. Craniosynostosis
3. Pierre Robin Syndrome
   • High arched palate/ cleft palate
   • Micrognathia
   • Posterior displacement of the tongue
   • Respiratory obstruction (position of tongue/ small mandible)
4. Stickler Syndrome

• Pierre Robin Syndrome
• Severe myopia + cataract
• Deafness

5. Cornelia de Lange syndrome (?)

• Brushy eye brow/ low hair line/ hypertrichosis on the limbs/trunk
•  Low set ears
• Micrognathia
• Limb defects: micromelia (small hands/feet)/ phocomelia
• CVS: ASD, VSD
• Mental retardation

6. Russell Silver syndrome
7. Noonan/turner’s syndrome

Eye (Coloboma/dermoids)

1. Treacher Collin Syndrome (AD)

•  Coloboma

2. Goldenhar syndrome (?)

• Coloboma
• Epibulbar dermoids

3. CHARGE (?)

•  Coloboma
• heart defect,
• choanal atresia,
• atresia of growth/mental retardation,
• genitourinary + ear abnormalities

4. Wardenburg (AD)

• Heterchromia iridis
• Pigmented changes in skin + hair (white forelock)
• Sensorineural deafness

Author – Elizabeth Stockley