Tetrasomy 9p

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).

Also known as: Chromosome 9, Tetrasomy 9p, Isochromosome 9p, tetrasomy type 9p, Mosaic tetrasomy 9p, chromosome 9p tetrasomy, tetrasomy of short arm of chromosome 9

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