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Tetrasomy 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).
ORPHA:3309
Classification level: Disorder
- Isochromosome 5p
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Antenatal, Neonatal
ICD-10: Q99.8
UMLS: C0795813
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