Tetrasomy 5p

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Synonyms: Isochromosome 5p

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay growth retardation/short stature hypotonia seizures ventriculomegaly hand and foot anomalies (e.g. clinodactyly overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly upslanting palpebral fissures hypertelorism abnormal auricles anteverted nasal tip midface hypoplasia).

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 June 2024

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Tetrasomy 5p?

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Clinical Trials

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