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]

References