22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
2634137
 MIXED_SAMPLE Infant
A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation.
Nukina S, Nishimura Y, Kinugasa A, Sawada T, Hamaoka K, Inazawa J, Tsuda S, Abe T.
Jinrui Idengaku Zasshi. 1989;34(3):235-41.
He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.