Distal deletion 17q
Synonyms: Distal monosomy 17q | Monosomy 17qter | Telomeric deletion 17q
A partial deletion of the long arm of chromosome 17 characterized by hypotonia growth delay severe global developmental delay microcephaly seizures congenital heart anomalies hand and foot anomalies (syndactyly symphalangism) and dysmorphic facial features including round face hypertelorism upslanting palpebral fissures and micrognathia. Reported deletions involve regions 17q21-q24.
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.
Newly diagnosed with
Distal deletion 17q?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.