Distal duplication 7p
Synonyms: Distal trisomy 7p | Telomeric duplication 7p | Trisomy 7pter
Distal trisomy 7p is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7 with highly variable phenotype typically characterized by severe to profound psychomotor delay intellectual disability dysmorphic features (incl. dolichocephaly microbrachycephaly high and/or broad forehead large anterior fontanel hypertelorism downslanting palpebral fissures low-set dysplastic ears low broad and prominent nasal bridge abnormal palate micro-/retrognathia) and hypotonia. Cardiovascular gastrointestinal skeletal and urogenital anomalies have commonly been reported.
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 duplication 7p?
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