CHIME syndrome in Adult
It has been reported in 6 children and is presumed to be an autosomal recessive trait.
Patients display general good health, but their lives are marked by severe intellectual disability, seizures, and a chronic migratory, nonscarring skin eruption with pruritus. One patient developed acute lymphocytic leukemia.
For more information, see OMIM.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
78572006 – Neurocutaneous syndrome
- Rud syndrome – Displays ichthyosis and hypogonadism
- Refsum disease – Infantile form of phytanic acid storage disease with features that include early onset, intellectual disability, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia
- Sjögren-Larsson syndrome – Ichthyosis, spastic neurologic disorder with fatty aldehyde dehydrogenase deficiency
- Netherton syndrome – "Bamboo hair," congenital ichthyosiform erythroderma, and atopic diathesis
- KID syndrome – Keratitis, ichthyosis, deafness
- IBIDS syndrome – Ichthyosis, brittle hair, impaired intelligence, decreased fertility, short stature