Monosomy 13q34
Synonyms: Del(13)(q34) | Distal deletion 13q34 | Subtelomeric deletion 13q34
Monosomy 13q34 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 13 principally characterized by global developmental delay mild intellectual disability obesity and mild craniofacial dysmorphism (microcephaly wide rectangular forehead downslanting palpebral fissures mild ptosis prominent nose with long nasal bridge and broad tip small chin). Other variable reported features include congenital heart defects hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
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 April 2024
Newly diagnosed with
Monosomy 13q34?
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Advocacy Organizations
CHAMP1 Research Foundation
The mission of the CHAMP1 Research Foundation (CHAMP1) is to improve the lives of those affected by changes to the CHAMP1 gene through early detection, clinic research, the development of effective treatments and support, increased public awareness, family support and patient advocacy.
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
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.