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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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14q22q23 microdeletion syndrome?
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Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
Syndromes Without A Name (SWAN) Australia
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Rare Chromosome Disorder Support Group – Unique
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