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Chromosome 22q11.2 deletion syndrome, distal

MONDO:0012740

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype 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 include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.

Also known as: chromosome 22q11.2 deletion syndrome, distal, distal 22q11.2 microdeletion syndrome, distal del(22)(q11.2), distal monosomy 22q11.2, distal chromosome 22Q11.2 deletion syndrome

191 clinical trials for this condition and its sub-types.

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Broader categories

Cardiovascular disorder (969) Disease (618) Heart disorder (273) Nervous system disorder (217) Immune system disorder (140) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (7) 22q11.2 deletion syndrome (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 75 Not yet recruiting 34 Not yet finished but already full! 24 Completed 54 Terminated 4
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