Imagawa-Matsumoto syndrome

What it is

A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre- and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases-Weaver syndrome and Cohen-Gibson syndrome- in the spectrum), they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, Neonatal

Inheritance

Autosomal dominant

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references