Distal 22q11.2 microdeletion syndrome

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Synonyms: Distal del(22)(q11.2) | Distal monosomy 22q11.2

A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 outside the DiGeorge critical region. The phenotype is characterized by prematurity pre- and post-natal growth retardation developmental delay (particularly speech) mild intellectual disability variable cardiac defects and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly arched eyebrows deep set eyes narrow upslanting palpebral fissures ear abnormalities (low-set ears tags and pits) hypoplastic alae nasi smooth philtrum down-turned mouth thin upper lip retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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