Deafness-epiphyseal dysplasia-short stature syndrome
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| Deafness-epiphyseal dysplasia-short stature syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Medical genetics |
| Patient UK | Deafness-epiphyseal dysplasia-short stature syndrome |
Deafness-epiphyseal dysplasia-short stature syndrome is a very rare genetic disorder which is characterized by bilateral congenital hearing loss, developmental delays (especially that affecting (bone maturation), intellectual disabilities of moderate severity, short stature, epiphyseal dysplasia, and mild facial dysmorphia, specifically frontal bossing and small, pointy chin. Obstruction of both lacrimal glands and umbilical and inguinal hernias have also been reported.[1][2][3] Only 5 cases have been reported in medical literature.[4]
Etimology[edit]
It was first described in 1973 by Pfeiffer et al., when he reported three brothers with the symptoms mentioned above, except that instead of hernias and lacrimal duct obstruction, nearsightedness was present.[5]
In early winter of 1996, Chitty et al. described two brothers born to consanguineous parents, both of the brothers had the same symptoms excluding the myopia and adding the hernias and lacrimal duct obstruction. They proposed that this case was that of a separate entity, more specifically a novel autosomal recessive genetic disorder.[6][5]
References[edit]
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Deafness epiphyseal dysplasia short stature syndrome". www.orpha.net. Retrieved 2022-05-18.
- ↑ "Deafness-Epiphyseal Dysplasia-Short Stature Syndrome". DoveMed. Retrieved 2022-05-18.
- ↑ "Deafness, epiphyseal dysplasia, short stature - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-18.
- ↑ "OMIM Entry - 601351 - GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION". www.omim.org. Retrieved 2022-05-18.
- ↑ 5.0 5.1 Chitty, L. S.; Hall, Cm; Baraitser, M. (January 1996). "Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay". Clinical Dysmorphology. 5 (1): 17–26. doi:10.1097/00019605-199601000-00003. ISSN 0962-8827. PMID 8867655. Unknown parameter
|s2cid=ignored (help) - ↑ Pfeiffer, R. A.; Jünemann, G.; Polster, J.; Bauer, H. (1973). "Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers". Clinical Genetics. 4 (2): 141–144. doi:10.1111/j.1399-0004.1973.tb01135.x. ISSN 0009-9163. PMID 4730943. Unknown parameter
|s2cid=ignored (help)
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