4p16.3 microduplication syndrome
MONDO:00198734p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.
Also known as: distal duplication 4p, distal trisomy 4p, telomeric duplication 4p, trisomy 4pter
2 clinical trials for this condition and its sub-types.
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Disease
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Human disease
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Chromosomal disorder
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Disease of genetic or genomic mechanism
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Overgrowth syndrome
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Autosomal anomaly
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Chromosome 4 disorder
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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Disorder of development or morphogenesis
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