chromosome 10q23 deletion syndrome
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
MONDO:0016909
partial monosomy of the long arm of chromosome 10
is_a
10q22.3q23 microdeletion syndrome
related
Del(10)(q22.3q23.3)
exact
deletion 10q22.3q23.3
exact
monosomy 10q22.3q23.3
exact