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 "depression" symptom

22q11.2 deletion syndrome

achondroplasia

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

aromatase deficiency

cadasil

child syndrome

classical phenylketonuria

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

dracunculiasis

fabry disease

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

krabbe disease

locked-in syndrome

malignant atrophic papulosis

oligodontia

oral submucous fibrosis

phenylketonuria

sneddon syndrome

triple a syndrome

trochlear dysplasia

von hippel-lindau disease

This symptom has already been validated