4p16.3 microduplication syndrome
4p16.3 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.
MONDO:0016941
partial duplication of the short arm of chromosome 4
is_a
MONDO:0019716
overgrowth syndrome
is_a
distal duplication 4p
exact
distal trisomy 4p
exact
telomeric duplication 4p
exact
trisomy 4pter
exact