Frias syndrome

A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.

Also known as: 14q22-q23 microdeletion syndrome, 14q22q23 microdeletion syndrome, Del(14)(q22q23), Frias syndrome, monosomy 14q22-q23, monosomy 14q22q23, Growth deficiency, Facial anomalies, and brachydactyly, chromosome 14Q22 deletion syndrome

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