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Condition report · Neurological

FAT4-Related Neurodevelopmental Disorder

A rare inherited condition affecting brain development, facial features and, in some people, the lymphatic system. It can cause Van Maldergem syndrome, and is caused by changes in both copies of the FAT4 gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of FAT4, which encodes a large cell-adhesion protein that guides how cells are organised in developing tissues, including the brain and lymphatic vessels.

Signs and symptoms

Neurodevelopmental abnormalities, with craniofacial and skeletal differences, as seen in Van Maldergem syndrome.

What a diagnosis changes

Developmental and educational support, with hearing, kidney and neurological assessment. Both parents of an affected child are usually carriers, so genetic counselling and carrier testing of relatives are available.

Genes analysed

MONDO:0100603Sources: [1][2]

Limitations

  • Van Maldergem syndrome can also be caused by the DCHS1 gene. This report analyses FAT4 only, so a negative result does not rule out Van Maldergem syndrome.

References

  1. Byerly K, Wolfe C, Brei M, Parris H, Fisher S, Alston A et al., 2026. Loss of the DCHS1 Intracellular Domain Expands Neurogenic Proliferation and Generates Van Maldergem-like Neurodevelopmental Defects. Cells
  2. FAT4 gene. MedlinePlus Genetics

Other neurological conditions

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