Asymmetric crying facies
| Asymmetric crying facies | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.0 |
| OMIM | 125520 |
| DiseasesDB | 32618 |
Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle,[1] is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is associated with other birth defects in more than 50% of cases.
When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.
Cayler syndrome is part of 22q11.2 deletion syndrome.[2]
It was characterized by Cayler in 1969.[3]
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 125520
- ↑ Shashi V, Berry MN, Hines MH (September 2003). "Vasomotor instability in neonates with chromosome 22q11 deletion syndrome". American Journal of Medical Genetics 121A (3): 231–4. doi:10.1002/ajmg.a.20219. PMID 12923863.
- ↑ Cayler GG (1969). "Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association". Arch Dis Child 44 (233): 69–75. doi:10.1136/adc.44.233.69. PMC 2020193. PMID 5765991.
- General
- Sapin SO, Miller AA, Bass HN (2005). "Neonatal asymmetric crying facies: a new look at an old problem". Clin Pediatr (Phila) 44 (2): 109–19. doi:10.1177/000992280504400202. PMID 15735828.
- Lahat E, Heyman E, Barkay A, Goldberg M (2000). "Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature". J Child Neurol 15 (12): 808–10. doi:10.1177/088307380001501208. PMID 11198496.
- Rioja-Mazza D, Lieber E, Kamath V, Kalpatthi R (2005). "Asymmetric crying facies: A possible marker for congenital malformations". J Matern Fetal Neonatal Med 18 (4): 275–7. doi:10.1080/14767050500246482. PMID 16318980.
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