Zunich–Kaye syndrome

Zunich–Kaye syndrome, also known as Zunich neuroectodermal syndrome

Rare disease

It is rare genetic syndrome that causes congenital ichthyosis.

History

It was first described in 1983.

Other Names

CHIME syndrome

Symptoms

Symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

1%-4% of people have these symptoms

• Acute lymphoblastic leukemia
• Autosomal recessive inheritance
• Brachycephaly
• Short and broad skull
• Broad 2nd toe
• Broad-based gait
• Camptodactyly
• Cerebral atrophy
• Cleft palate
• Clinodactyly of the 5th finger
• Conductive hearing impairment
• Contracture of the proximal interphalangeal joint of the 5th finger
• Depressed nasal bridge
• Duplicated collecting system
• Epicanthus
• Fine hair
• Frontal bossing
• Generalized hypotonia
• Growth abnormality
• Abnormal growth
• Hydronephrosis
• Hypertelorism
• Hypoplastic nipples
• Small nipples
• Intellectual disability
• Mental deficiency
• Joint contracture of the hand
• Large for gestational age

Genetics

• Zunich–Kay syndrome is considered to have an autosomal recessive inheritance pattern.
• This means the defective gene is located on an autosome, and two copies of the gene, one from each parent, are required to inherit the disorder.
• The parents of an individual with autosomal recessive disorder both carry one copy of the defective gene, but usually do not have the disorder.

Treatment

Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.

Zunich–Kaye syndrome Resources
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