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.

Also known as: Del(10)(q22.3q23.3), deletion 10q22.3q23.3, monosomy 10q22.3q23.3, 10q22.3q23 microdeletion syndrome, 10q22.3q23.3 microdeletion syndrome, chromosome 10Q22.3-q23.2 deletion syndrome, chromosome 10q22.3-q23.2 deletion syndrome, juvenile polyposis of infancy

2 clinical trials for this condition and its sub-types.