Tetrasomy 5p
MONDO:0018028Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, 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).
Also known as: Isochromosome 5p, tetrasomy type 5p
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 5 disorder
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Disease by etiologic mechanism
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Partial trisomy/tetrasomy of chromosome 5
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Partial trisomy/tetrasomy of the short arm of chromosome 5
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Syndrome caused by partial chromosomal duplication
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