Zunich neuroectodermal syndrome. CHIME syndrome
Incidence
Inheritance : Autosomal recessive. Less than 10 cases reported.
Clinical Characteristics
Zunich neuroectodermal syndrome. It is suggested the disorder be called CHIME syndrome (for oculo colobomas, congenital heart disease, early onset ichthyosiform dermatosis, mental retardation and ear anomalies (conductive hearing loss)). Alternatively, the 'E' could stand for seizures (epilepsy). It is a new neuroectodermal syndrome, the major features of which included early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, mental retardation, and remarkably similar facial features.The following signs occur very frequently: ptosis, ichthyosis, thick lips, microdontia, cleft palate, tall stature, hypertelorism, flattened nose, short philtrum, epicanthic folds, tooth shape anomaly, seizures ( any type), abnormal dental position, abnormal sole/deep creases, brachycephaly/plat occiput, hypoplastic/absent nipples, retinoschisis/retine coloboma, squint/paresis of ocular muscles, mental retardation (moderate/severe), sparse/absent scalp hair(generalized), abn. dermatoglyphics excl. simian crease, brachydactyly (Frequent sign)
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
It is a clinical diagnosis. Keep in mind the differential diagnosis: Ichthyosis and neurologic abnormalities, including seizures and mental retardation, have been described in several genetic syndromes, including Ruds syndrome, Refsum disease, Sjogren-Larsson syndrome, Netherton syndrome, the keratitis, ichthyosis, and deafness (KID) syndrome, and the ichthyosis, brittle hair, impaired intelligence, decreased fertility, and short stature (IBIDS) syndrome.