14q22q23 mikrodelesjon
Engelsk navn: 14q22q23 microdeletion syndrome
Engelske synonym: 14q22-q23 microdeletion syndrome,Del(14)(q22q23),Monosomy 14q22-q23,Monosomy 14q22q23
Definisjon
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.
Fra Orphanet
ORPHA: 264200
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
