14q22q23 Microdeletion Syndrome
Description
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.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
14q22q23 Microdeletion Syndrome Is also known as monosomy 14q22-q23, monosomy 14q22q23, 14q22-q23 microdeletion syndrome, del(14)(q22q23).
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PAPILLOMA OF CHOROID PLEXUS OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 CRANIOECTODERMAL DYSPLASIA 2; CED2 PRIMROSE SYNDROME; PRIMS CHROMOSOME 15q14 DELETION SYNDROME