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CHIME syndrome in Adult
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CHIME syndrome in Adult

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

CHIME syndrome is a rare neuroectodermal disorder with colobomas of the eyes, heart defects, ichthyosiform dermatosis in the first month of life, mental retardation (intellectual disability), ear defects, and epilepsy. Characteristic facial features include brachycephaly, upslant of palpebral fissures, hypertelorism, flat mid face and philtrum, anteverted nostrils, thin upper lip, widely spaced teeth, and excessive creasing around a wide mouth; less constant findings include hearing loss, cleft palate, pectus excavatum, and supernumerary nipples.

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.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
78572006 – Neurocutaneous syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • 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

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 10/02/2018
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CHIME syndrome in Adult
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CHIME syndrome : Seizures, Hearing loss, Hypertelorism, Ichthyosis
Clinical image of CHIME syndrome
Copyright © 2019 VisualDx®. All rights reserved.