Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay (in some patients also severe language deficiency), intellectual disability, hypotonia, peculiar brain malformations (including dysplastic corpus callosum, cortical malformations included dysgyria and polymicrogyria), and facial dysmorphism (including wide forehead with frontal bossing and high anterior hairline, prominent eyes with upslanted palpebral fissures, arched eyebrows, long eyelashes, midface hypoplasia, broad nasal bridge and anteverted nares). Dysphagia, failure to thrive, seizures, musculoskeletal abnormalities (such as scoliosis, vertebral defects, pes planus and joint laxity) are also present in the majority of the patients. Additional clinical features may include dyspraxia, genitourinary, ocular, respiratory, endocrinological and behavioural abnormalities.

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