Schuurs-Hoeijmakers syndrome

What it is

A rare genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability, motor and speech delay, and characteristic craniofacial features. Other features might include hypotonia, seizures, feeding difficulties, autism spectrum disorder, and sleep disturbances. Congenital anomalies, including cardiac, ocular, cerebral, and genitourinary defects, may also be observed.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, Childhood, Infancy, 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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

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