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14q22q23 microdeletion syndrome
Disease definition
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.
ORPHA:264200
Classification level: Disorder- Synonym(s):
- 14q22-q23 microdeletion syndrome
- Del(14)(q22q23)
- Monosomy 14q22-q23
- Monosomy 14q22q23
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Neonatal, Infancy
- ICD-10: Q93.5
- OMIM: 609640
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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