Distal deletion 15q

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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 July 2024

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Distal deletion 15q?

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