Distal deletion 4q
Synonyms: Distal monosomy 4q | Monosomy 4qter | Telomeric deletion 4q
A rare partial autosomal monosomy characterized by variable combination of craniofacial developmental digital skeletal and cardiac features: hypotonia developmental delay growth deficiency cleft palate cardiovascular malformations abnormalities of the hands and feet and typical dysmorphic features such as microcephaly rounded facies small eyes broad nasal bridge upturned nose full cheeks small mouth and chin.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Distal deletion 4q?
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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.
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