| Camera–Marugo–Cohen syndrome | |
|---|---|
| Other names | Obesity, mental retardation, body asymmetry and muscle weakness syndrome |
| Specialty | Medical genetics |
| Symptoms | Obesity, intellectual disabilities, widespread body asymmetry and generalized muscle weakness |
| Usual onset | Post-natal |
| Duration | Life-long |
| Diagnostic method | Physical evaluation |
| Prevention | none |
| Prognosis | Good |
| Frequency | 2 unrelated cases have been reported in medical literature |
| Deaths | - |
Camera–Marugo–Cohen syndrome, also known as obesity, mental retardation, body asymmetry and muscle weakness syndrome is a very rare genetic disorder which is characterized by familial obesity, intellectual disabilities, body asymmetry, and muscular weakness. It is a type of syndromic obesity/obesity syndrome. 2 cases have been reported in medical literature (there were three, but one of the patients was found to have diploid mixoploidy.)
Etiology
This disorder was discovered in 1993 by Camera et al., when they described a patient with short stature, intellectual disability, hypogonadism, micropenis, camptodactyly, and cleft lip/palate. They came to the conclusion that this was a novel post-natal obesity syndrome.
A second case report was published by Lambert et al. in 1999, whey described 2 un-related patients with generalized obesity, "mental retardation", body asymmetry, muscle weakness, retrognathia, blepharoptosis, hyperlordosis, deviation of the hallux, syndactyly, and camptodactyly.
A comment left in 2001 on the case report described by Lambert et al. (made by no other than Lambert et al. themselves) updated the two patient case report: one of the patients were found to have diploid/triploid mixoploidy, the second patient and the patient described by Camera et al. were unavailable for karyotyping.
References
- "Camera Marugo Cohen syndrome - About the Disease - Genetic and Rare Diseases Information Center". Archived from the original on 2022-05-30. Retrieved 2022-05-30.
- "Camera Marugo Cohen syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2023-11-10. Retrieved 2022-05-30.
- "OMIM Entry - 604257 - CAMERA-MARUGO-COHEN SYNDROME". www.omim.org. Archived from the original on 2023-11-10. Retrieved 2022-05-30.
- Camera, G.; Marugo, M.; Cohen, M. M. (1993-11-01). "Another postnatal-onset obesity syndrome". American Journal of Medical Genetics. 47 (6): 820–822. doi:10.1002/ajmg.1320470605. ISSN 0148-7299. PMID 8279478. Archived from the original on 2022-05-30. Retrieved 2022-05-30.
- Lambert, D. M.; Watters, G.; Andermann, F.; Der Kaloustian, V. M. (1999-09-17). "The Camera-Marugo-Cohen syndrome: report of two new patients". American Journal of Medical Genetics. 86 (3): 208–214. doi:10.1002/(sici)1096-8628(19990917)86:3<208::aid-ajmg3>3.0.co;2-h. ISSN 0148-7299. PMID 10482867. Archived from the original on 2022-05-30. Retrieved 2022-05-30.
- Lambert, D. M.; Watters, G.; Andermann, F.; Der Kaloustian, V. M. (2001-12-15). "Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy". American Journal of Medical Genetics. 104 (4): 343–344. doi:10.1002/ajmg.10074. ISSN 0148-7299. PMID 11754073. Archived from the original on 2022-05-30. Retrieved 2022-05-30.