Monosomy 13q14
Synonyms: Del(13)(q14) | Deletion 13q14
Monosomy 13q14 is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13 characterized by developmental delay variable degrees of intellectual disability retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly high and broad forehead prominent eyebrows thick anteverted ear lobes short nose with a broad nasal bridge and bulbous tip prominent philtrum large mouth with thin upper lip and thick everted lower lip). Other features reported include high birth weight macrocephaly pinealoma hepatomegaly inguinal hernia and cryptorchidism.
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 December 2023
Newly diagnosed with
Monosomy 13q14?
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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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.