15q overgrowth syndrome
15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016965
partial duplication of the long arm of chromosome 15
is_a
MONDO:0019716
overgrowth syndrome
is_a
15q26 overgrowth syndrome
exact