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.
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
Distal deletion 4q?
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Advocacy Organizations
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
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