[MIM 610 516]

(Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome)

Acronym for Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis

Very rare. Described in Pakistan. Autosomal recessive transmission of a mutation of the INPP5E gene (9q34.3) resulting in ciliopathy.

Association of:

• an intellectual disability characterized by speech delay and mild to moderate intellectual disability,
• truncal obesity appearing between 5 and 12 years of age,
• non-progressive congenital retinal dystrophy with poor night vision and visual acuity that decreases between 1 and 3 years of age; cases of cataracts can occur in the second or third decade of life,
• a micropenis in men.

Phenotype close to Bardet-Biedl and Cohen syndromes (see these terms)

For individuals with MORM syndrome, symptoms do not appear until about one year of age.

Anesthetic implications:

mental retardation, obesity

References : 

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Update: February 2023