Chromosomal syndromes
|
Features
|
| Velocardiofacial (DiGeorge) syndrome |
Microcephaly and microstomia |
| Flat nasal bridge, small ears, short stature |
| Immune deficiency, congenital cardiac disease |
| Velopharyngeal incompetence with or without cleft palate |
| Laryngeal and tracheal anomalies |
| 22q 11 deletion (FISH test) |
| Cleft palate in 30% of cases |
| Trisomy 21 (Down's syndrome) |
Microstomia and relative macroglossia |
| Epicanthic folds, simian crease |
| Congenital cardiac disease |
|
Atlantoaxial subluxation and instability
|
Monogenic syndromes
|
| Van der Woude syndrome |
Lower lip pits |
| Hypodontia |
| Congenital cardiac disease |
| Musculoskeletal issues |
| Most common orofacial clefting syndrome |
| Treacher-Collins syndrome |
Micrognathia and maxillary hypoplasia |
| Choanal atresia |
| Eye and ear malformations |
| Intubation may become more difficult with age |
| Cleft palate in 30% of cases |
| Hemifacial microsomia(Goldenhar syndrome) |
Hemifacial and mandibular hypoplasia |
| Cervical spine abnormalities |
| Ear and eye abnormalities |
| Intubation may become more difficult with age |
| Stickler syndrome |
Progressive connective tissue disorder (autosomal dominant) |
| Midface hypoplasia |
| Micrognathia/PRS |
| Retinal detachment and early cataracts |
| Deafness |
|
Hypermobility of joints
|
Sequence
|
| Pierre Robin Sequence |
Micrognathia |
| Glossoptosis |
| Underlying syndrome/anomalies |
| Usually easier to intubate with age |
| Cleft palate in 80% of cases |
