Camera–Marugo–Cohen syndrome explained

Camera–Marugo–Cohen syndrome
Synonyms:	Obesity, mental retardation, body asymmetry and muscle weakness syndrome^[1]
Symptoms:	Obesity, intellectual disabilities, widespread body asymmetry and generalized muscle weakness
Onset:	Post-natal
Duration:	Life-long
Diagnosis:	Physical evaluation
Prevention:	none
Management:	-->
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^[2] 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.)^[3]

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.^[4]

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.^[5]

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.^[6]

Notes and References

1. Web site: Camera Marugo Cohen syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-30 . 2022-05-30 . https://web.archive.org/web/20220530200504/https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome/ . live .
2. Web site: Camera Marugo Cohen syndrome . 2022-05-30 . NORD (National Organization for Rare Disorders) . en-US . 2023-11-10 . https://web.archive.org/web/20231110153003/https://rarediseases.org/gard-rare-disease/camera-marugo-cohen-syndrome/ . live .
3. Web site: OMIM Entry - 604257 - CAMERA-MARUGO-COHEN SYNDROME . 2022-05-30 . www.omim.org . en-us . 2023-11-10 . https://web.archive.org/web/20231110153021/https://www.omim.org/entry/604257#3 . live .
4. Camera . G. . Marugo . M. . Cohen . M. M. . 1993-11-01 . Another postnatal-onset obesity syndrome . American Journal of Medical Genetics . 47 . 6 . 820–822 . 10.1002/ajmg.1320470605 . 0148-7299 . 8279478 . 2022-05-30 . 2022-05-30 . https://web.archive.org/web/20220530183917/https://pubmed.ncbi.nlm.nih.gov/8279478/ . live .
5. 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 . 10.1002/(sici)1096-8628(19990917)86:3<208::aid-ajmg3>3.0.co;2-h . 0148-7299 . 10482867 . 2022-05-30 . 2022-05-30 . https://web.archive.org/web/20220530183915/https://pubmed.ncbi.nlm.nih.gov/10482867/ . live .
6. 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 . 10.1002/ajmg.10074 . 0148-7299 . 11754073 . 2022-05-30 . 2022-05-30 . https://web.archive.org/web/20220530191218/https://pubmed.ncbi.nlm.nih.gov/11754073/ . live .