Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening.

[22q11.2 deletion syndrome]

Asymmetric crying facies (ACF ) is congenital hypoplasia of the depressor anguli oris muscle characterized by asymmetry of lower lip depression during crying . This has an overall incidence of 0 .6 %. This study determines the incidence of ACF in a large population of patients with 22 q 11 .2 deletion .A retrospective review of medical records on patients with a confirmed 22 q 11 .2 deletion was undertaken .A total of 836 records were reviewed . Of these , 117 (14 %) were noted to have ACF on physical examination . Within this latter group , palatal anomalies were common (77 %), as was congenital heart disease (78 %); however , these numbers did not differ significantly from their known prevalence in the 22 q 11 .2 population .W e report a 14 % incidence of ACF in patients with a 22 q 11 .2 deletion , significantly higher than in the general population . We suggest , therefore , that newborns with ACF be referred for further screening for the 22 q 11 .2 deletion syndrome .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom