Gordon syndrome
| Gordon syndrome | |
|---|---|
| Other names | Camptodactyly-cleft palate-clubfoot syndrome |
 | |
| Gordon syndrome is inherited in an autosomal dominant manner | |
Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet.
Signs and symptoms
[edit]Gordon syndrome is a form of hypertension. It is characterized by severe hyperkalemia with otherwise normal renal functioning. Hyperkalemia is excessive potassium concentration in the blood, and is often accompanied by other electrolyte imbalances, such as high amounts of chloride in blood (hypercholermia), and acidemia (acidic blood).
It is distinguished from other forms of hypertension by the severity of the hyperkalemia, which reaches 8-9 mmol/L in patients with GS [[1]]. This can result in vomiting, diarrhea, and abdominal pain. In severe cases, patients present with short stature, muscle weakness, and intellectual disability.[2]
Other signs and symptoms include short stature, bifid uvula, hip dislocation, scoliosis or kyphosis, or syndactyly.[3][4]
Cause
[edit]Gordon syndrome is a rare autosomal dominant disorder caused by mutation in PIEZO2.[4]
Epidemiology
[edit]It affects males and females equally. Fewer than 50 cases have been reported worldwide.[3]
History
[edit]It was first described in Australia in the 1960s by a doctor named Richard Gordon who tracked several Australian families with the gene. When more cases were discovered, the gene was found to have a phenotype-genotype correlation, shown by how some pedigrees of the gene experienced more severe symptoms.[5]
References
[edit]- ^ Ceccato, Filippo; Mantero, Franco (2019). "Monogenic Forms of Hypertension". Endocrinology and Metabolism Clinics of North America. 48 (4): 795–810. doi:10.1016/j.ecl.2019.08.009. PMID 31655777. Retrieved 20 March 2025.
- ^ Manas, F; Singh, S (2024). "Pseusdohypoaldosteronism Type II or Gordon Syndrome". Cureus. 16 (1): e52594. doi:10.7759/cureus.52594. PMC 10874887. PMID 38374860.
- ^ a b "Gordon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 15 April 2019.
- ^ a b "Gordon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 April 2019.
- ^ Mabillard, H; Sayer, JA (2019). "The Molecular Genetics of Gordon Syndrome". Genes. 10 (12): 661–662. doi:10.3390/genes10120986. PMC 1834361. PMID 3179549.
- Gordon syndrome. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/4/2012.
External links
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