3q13 microdeletion syndrome
Synonyms: Del(3)(q13) | Monosomy 3q13
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable but it is primarily characterized by significant developmental delay postnatal growth above the mean muscular hypotonia and distinctive facial features (such as broad and prominent forehead hypertelorism epicantic folds anti-mongloid slanted eyes ptosis short philtrum protruding lips with a full lower lip high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
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 October 2023.
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3q13 microdeletion syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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