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Congenital unilateral hypoplasia of depressor anguli oris

Orpha number ORPHA1166
Synonym(s) Isolated asymmetric crying facies
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS
  • C0431406
MeSH
  • C535349
MedDRA -

Summary

Asymmetric crying facies is due to congenital hypoplasia of the depressor anguli oris muscle. It is associated with other defects in more than 50% of cases. In two published series these associated anomalies involved the head and neck (50%), heart (40%), skeleton (20%), genitourinary tract (20%), central nervous system (10%), gastrointestinal tract (6%), and miscellaneous minor anomalies (8%). Failure to thrive and psychomotor retardation were found in 10% and 6% patients, respectively, on follow-up. Three infants died neonatally of severe heart disorders, and another died of central nervous system anomalies. Studies of many multiplex families suggest an autosomal dominant inheritance. Deletion of 22q11.2 has been detected in patients with asymmetric crying facies. This syndrome has also been referred to as Cayler cardiofacial syndrome and considered to be part of the CATCH22 phenotype, along with DiGeorge syndrome and velocardiofacial syndrome.


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