Distal deletion 15q
Synonyms: 15q26 deletion syndrome | Distal monosomy 15q | Monosomy 15q26 | Telomeric 15q deletion syndrome
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction developmental delay variable degrees of intellectual disability hand and foot anomalies (e.g. brachy-/clinodactyly talipes equinovarus nail hypoplasia proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly triangular face broad nasal bridge micrognathia). Neonatal lymphedema heart malformations aplasia cutis congenita aortic root dilatation and autistic spectrum disorder have also been reported.
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 September 2023.
Newly diagnosed with
Distal deletion 15q?
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.