14q22q23 microdeletion 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.

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Aliases

• 14q22-q23 microdeletion syndrome
• 14q22q23 microdeletion syndrome
• chromosome 14Q22 deletion syndrome
• Del(14)(q22q23)
• Frias syndrome
• Frias syndrome
• Growth deficiency, Facial anomalies, and brachydactyly
• Monosomy 14q22-q23
• monosomy 14q22-q23
• Monosomy 14q22q23
• monosomy 14q22q23