User:P J McGill/Asymmetric crying facies

P J McGill/Asymmetric crying facies

Introduction

Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, 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.

Signs of symptoms

Forms

• physical- After birth, The individual suffering from Asymmetric crying facies shows distinct physical signs. Due to the underdevelopment of the muscles in the patient, only one side of the face shows reaction. This can be seen when the child cries or smiles. Deviation of expression is only exhibited in one side of the face. This disorder can be clearly identified by a thinning lip towards the sign of premature muscle development. While the other side of the child's mouth is well developed, a natural size lip shape and form displays the reactions of the child's mood.

• non-physical- this genetic disorder has no non-physical expressions. However, many patients suffering from mental disorders at birth display this disability.

Diagnosis

The diagnosis process happens at birth. The symptoms of this disorder are easily recognizable due to the easy-to-spot physical symptoms of this disorder. Any physician will be able to diagnose the disorder after the birthing process. the signs of the disorder can be exaggerated during crying periods.

Treatment

No treatment is needed. While the initial results of this disorder can be shocking,when the infant matures and bones and muscles develop, the symptoms become less noticeable. eventually, full muscle development will occur and the disorder will no longer be present.

Genetic mutation

This disorder is a result of part of 22q11.2 deletion syndrome.

Epidemiology

1 in 160 newborns suffer from this disorder. Males are twice as likely to have this disorder. while no link between environment and disorder have been found, patients suffering from ACF are more likely to have abnormalities of the ears.

History

ACF was characterized by Cayler in 1969..

References

• 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Category:Autosomal monosomies and deletions Cayler cardiofacial syndrome