Abstract
CHIME syndrome is the acronym for a multisystem disorder consisting of Coloboma, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear anomalies with hearing loss. Characteristic features of CHIME syndrome include: (1) retinal coloboma; (2) congenital heart defects; (3) migratory ichthyosiform dermatosis at or within a few weeks of birth; (4) moderate to severe mental retardation; (5) seizure disorder exacerbated by high environmental temperatures and fever; (6) ear anomalies and mild to moderate conductive hearing loss secondary to increased desquamation in the auditory canal; (7) genitourinary abnormalities (hydronephrosis, bicornuate uterus); and (8) dysmorphic features consisting of brachycephaly, hypertelorism, broad, flat nasal root, short philtrum, full lips, anomalous dentition, low set, small nipples, brachydactyly, and broad second toes. Additional associated manifestations include feeding difficulties, recurrent respiratory infections in childhood, and large size at birth. Autosomal recessive inheritance is presumed on the basis of recurrence in a sib pair. A molecular basis for the disorder has not been determined.
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Zunich, J., Esterly, N. (2008). Chime Syndrome (Zunich Syndrome). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_64
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DOI: https://doi.org/10.1007/978-3-211-69500-5_64
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