Zunich neuroectodermal syndrome
Synonyms
2
Overview
Zunich neuroectodermal syndrome: is a very rare ectodermal dysplasia syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, conductive hearing loss and epilepsy.
Symptoms
Zunich-Kaye syndrome is characterized by
- early-onset migratory ichthyosiform dermatosis
- bilateral ocular coloboma
- conductive hearing loss
- seizures
- intellectual disability
- characteristic facial features (brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism, flat midface and philtrum, anteverted nostrils, thin upper lip, and excessive creases around a wide mouth. Ears are low-set with thick overfolded helices. Teeth are widely spaced and square in shape)
Less constant findings are:
- cleft palate or a less severe equivalent
- cardiac defects
- pectus excavatum
- supernumerary nipples.
Causes
Zunich-Kaye syndrome is caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2
Zunich–Kaye 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.
Diagnosis
Begin the history by asking how long the patient has had scaly skin and whether he has had it before. Where did it first appear? Did a lesion or skin eruption, such as erythema, precede it? Has the patient used a new or different topical skin product recently? How often does he bathe? Has he had recent joint pain, illness, or malaise? Ask the patient about work exposure to chemicals, use of prescribed drugs, and a family history of skin disorders. Find out what kinds of soap, cosmetics, skin lotion, and hair preparations he uses.
Resources
See Research Publications