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Facial Developmental Anomalies
About the Slide (SLIDE14-6)
The four theatrical masks in your slide are a teaching tool used to demonstrate facial clefting anomalies - each mask representing a different type or severity of cleft defect affecting the lip, jaw, and palate. The masks mimic the visual appearance of these conditions on a full face.
Normal Face Development (Embryological Basis)
The face forms between weeks 4-8 from five facial prominences that grow around the stomodeum (primitive mouth) and must fuse correctly:
| Prominence | Structures it forms |
|---|
| Frontonasal | Forehead, bridge of nose, medial & lateral nasal prominences |
| Medial nasal | Philtrum of upper lip, premaxilla, nasal tip & septum |
| Lateral nasal | Alae of nose |
| Maxillary | Cheeks, lateral upper lip, secondary palate |
| Mandibular | Lower jaw, lower lip |
Fusion of the maxillary prominence with the medial nasal prominence on each side forms the upper lip. Failure of this fusion = cleft lip.
The Incisive Foramen: Key Landmark for Classification
All facial clefts are classified relative to the incisive foramen:
- Anterior clefts (anterior to incisive foramen): cleft lip, cleft upper jaw/alveolus
- Posterior clefts (posterior to incisive foramen): cleft secondary palate, cleft uvula
- Combined: both anterior and posterior components
Types of Facial Clefts
1. Cleft Lip (Cheiloschisis)
Mechanism: Failure of the maxillary prominence to fuse with the merged medial nasal prominences. The labial groove persists, epithelium stretches and breaks down, dividing the lip into medial and lateral parts.
- Unilateral cleft lip - one side fails to fuse (more common; ~1 in 1000 births, 60-80% male)
- Bilateral cleft lip - both sides fail
- A partial bridge of tissue called the Simonart band may connect parts in incomplete clefts
- Severity ranges from a notch in the vermilion border to a complete cleft extending into the nostril
2. Cleft Palate (Palatoschisis)
Mechanism: Failure of the lateral palatine shelves to elevate, meet, and fuse during weeks 7-12. Causes include:
-
Shelves too small
-
Failure to elevate horizontally
-
Inhibition of fusion
-
Tongue fails to drop (micrognathia)
-
Cleft uvula - mildest form (bifid uvula), isolated failure at the posterior tip
-
Partial cleft palate - soft palate only
-
Complete cleft palate - extends through soft and hard palate to incisive foramen
3. Combined Cleft Lip + Cleft Palate
The most severe form. A complete unilateral or bilateral cleft can extend from the lip through the alveolus, through the incisive foramen, and all the way back through the hard and soft palate.
(A = normal; B = cleft uvula; C = unilateral posterior palate cleft; D = bilateral posterior cleft; E = complete unilateral cleft lip+jaw with anterior palate cleft; F = complete bilateral cleft lip+jaw with bilateral anterior palate cleft; G & H = most severe combined forms)
4. Median Cleft Lip (Rare)
Mechanism: Incomplete merging of the two medial nasal prominences in the midline (different from lateral cleft lip which involves the maxillary prominence). Associated with brain defects (holoprosencephaly) and cognitive impairment. Caused by:
- Mutations in SHH (Sonic Hedgehog) gene
- Altered cholesterol biosynthesis
- Teratogens like alcohol in week 3
5. Oblique Facial Cleft
Runs from the lip toward the eye along the nasolacrimal groove (between lateral nasal and maxillary prominences). Rare.
6. Holoprosencephaly with Proboscis + Synophthalmia
The extreme end - massive midline tissue deficiency causing:
- Fusion of both eyes into one (synophthalmia/cyclopia)
- A single tube-like nose (proboscis)
- Single forebrain ventricle
Clinical Photographs
(A = normal; B = unilateral cleft lip into nostril; C = unilateral cleft through lip and jaw; D = bilateral cleft lip; E = isolated cleft palate; F = cleft palate + unilateral anterior cleft lip)
(A = bilateral cleft lip, B = cleft palate, C = oblique facial cleft, D = midline cleft lip)
Epidemiology & Etiology
| Feature | Cleft Lip ± Palate | Isolated Cleft Palate |
|---|
| Incidence | ~1/700 births | ~1/1500 births |
| Sex | More in males (65%) | More in females (55%) |
| Ethnicity | Highest: Asian, Native American (3.5/1000); Lowest: African American (1/1000) | - |
Risk factors:
- Genetic: Mutations in IRF6 (Van der Woude syndrome - most common associated syndrome, autosomal dominant), MSX1, SHH
- Teratogens: Valproic acid (anticonvulsant), alcohol, cigarette smoking
- Most cases are multifactorial
Summary: The Four Masks in the Slide
The 2x2 arrangement of masks likely represents:
- Top left - Normal face (reference)
- Top right - Unilateral cleft lip (one side)
- Bottom left - Unilateral cleft lip extending to nostril (complete anterior cleft), shown by the long black line running from eye/nostril to lip
- Bottom right - Bilateral or more severe combined cleft (both sides affected, more distorted appearance)
These are teaching masks used to show how facial fusion defects appear on the surface of the face, corresponding to different failure points in the fusion of facial prominences during weeks 4-8 of embryogenesis.
Sources: The Developing Human: Clinically Oriented Embryology, p.537-544; Langman's Medical Embryology, p.322-327