Distal deletion 14q
Synonyms: Distal monosomy 14q | Telomeric deletion 14q
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay hypotonia congenital heart defects dysmorphic features (high forehead small palpebral fissures epicanthi blepharophimosis broad and flat nasal bridge broad philtrum thin upper lip high arched palate pointed chin malformed ears). High-pitched weak cry seizures and various dental and oftalmological anomalies were also 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 April 2024
Newly diagnosed with
Distal deletion 14q?
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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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