LEOPARD syndrome
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LEOPARD syndrome a rare autosomal dominant disorder with multiple features caused by a specific mutation in the PTPN11 gene.[1]
The name of a condition came from a mnemonic that describes the findings:[2]
- Lentigines.
- EKG abnormalities - specifically bundle branch blocks.
- Ocular hypertelorism - wideset eyes.
- Pulmonary stenosis.
- Abnormal genitalia - single gonad, classically cryptorchidism in males.
- Retarded growth.
- Deafness (sensorineural).
See also
References
- ↑ Schrader, KA.; Nelson, TN.; De Luca, A.; Huntsman, DG.; McGillivray, BC. (Feb 2009). "Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.". Clin Genet 75 (2): 185-9. doi:10.1111/j.1399-0004.2008.01100.x. PMID 19054014.
- ↑ Martínez-Quintana, E.; Rodríguez-González, F. (Oct 2012). "LEOPARD Syndrome: Clinical Features and Gene Mutations.". Mol Syndromol 3 (4): 145-57. doi:10.1159/000342251. PMC 3507272. PMID 23239957. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507272/.