2 common syndromes associated with cleft palate:
Pierre Robin sequence:
Definition:
It is a series of congenital malformations of the face characterized by:
A classic triad of
 micrognathia - underdevelopment of the lower jaw
 glossoptosis - backward-positioned tongue
 U - shaped cleft palate.
Named after a French dental surgeon Pierre Robin
Etiology:
Normally, between 9-11 weeks of gestation, the tongue moves down and away from the
roof of the mouth. This allows space for the sides of the palate to shift to the midline
and close. However, in PRS the small lower jaw keeps the tongue positioned higher in
the mouth than normal, interfering with the normal closure of the palate. This typically
results in a wide U-shaped cleft of the soft and part of the hard palate.
Hypoplastic Mandible
shaped cleft palate
Glossoptosis
Obstruction of Palatofusion
Causes:
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Genetical
Malformation
Deformation
Connective tissue dysplasia
PRS can occur part of syndromes. The common syndromes are (Stickler syndrome /
Teacher Collins syndrome / Velocardiofacial syndrome / CHARGE syndrome / Trisomy
11q syndrome / Edward's syndrome / Morbius syndrome)
Or can occur as an isolated anomaly linked to mutation of SOX9 gene.
* SOX9 gene codes for transcription factor which implicates the skeleton and
reproductive system
U
Features:
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Respiratory distress
Micrognathia
Glossoptosis
Cleft palate
Club feet
CHD
Benign murmurs
Undescended testes
Diagnosis
_Clinically at birth
_Breathing difficulty
_Feeding difficulties
_Genetic testing (FISH)
_Radioimaging-Polysomnography
Management
 Surgery:
_Tongue lip adhesion (glossoplexy)
_ Mandibular distraction (osteogenesis)
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Tracheostomy
Monitor apnea
Sleep baby in prone position
Feed in upright posture
Gastrostomy
Family education
Van der woude syndrome: [cleft lip syndrome, lip pit syndrome, dimpled
papillae of the lip]
It's autosomal dominant syndrome with cleft lip/cleft palate - Lip pits are present
Etiology:
Deletions on chromosome bands 1q32, 17P11
clinical features:
1 in 100,000-200,000 people
1-2% patients with cl/ cp have van der woude syndrome
Affect Both genders equally.
Hall mark: CL/CP + lower lip Pits
Hyper nasal voice and cleft or bifid uvula are common findings
Lip pits are medial on Vermillion border of the lower lips
Lip pits are associated with accessory salivary glands
Maxillary hypodontia
Missing maxillary Incisors / premolars.
Syngnathia
High arched palate
Ankyloglossia
EXTRA ORAL FINDINGS: Limb anomalies
Popliteal webs
Brain abnormalities
Accessory nibbles
Congenital heart defects
Management:
Orofacial + physical examination
Surgical repair of cleft lip and palate
Surgical excision of lip pits