14q22q23 microdeletion syndrome

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14q22q23 microdeletion syndrome

Synonyms: 14q22-q23 microdeletion syndrome | Del(14)(q22q23) | Monosomy 14q22-q23 | Monosomy 14q22q23

14q22q23 microdeletion syndrome is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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14q22q23 microdeletion syndrome?

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