Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Heritability of IQ wikipedia , lookup
Quantitative trait locus wikipedia , lookup
Fetal origins hypothesis wikipedia , lookup
Saethre–Chotzen syndrome wikipedia , lookup
Medical genetics wikipedia , lookup
Birth defect wikipedia , lookup
Hemiparesis wikipedia , lookup
Frontonasal dysplasia wikipedia , lookup
National Foundation for Ectodermal Dysplasias Ectrodactyly-Ectodermal Dysplasia Clefting (EEC) Syndrome One of the relatively common ectodermal dysplasia (ED) syndromes that is more complex than others is the ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome. It is often called the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence of all or part of a finger or toe. Both hands and both feet are usually involved, but there are exceptions and the severity of the defect is not symmetric. Tear ducts are abnormal in most affected individuals; as a result, excessive tearing, inflammation of the eyes, and sensitivity to light (photophobia) may occur. Skin and hair may be more lightly pigmented than normal. Scalp hair, eyebrows, and eyelashes are sparse. Nails may be abnormal. One of the most visible defects is cleft lip with or without cleft. The teeth may be absent or conical in shape. Hearing loss of the conductive type has been noted. In addition, abnormal voice quality has been observed in some individuals, and there may be defects of the reproductive organs or kidneys. Choanal atresia, recurrent infections and growth hormone deficiency have also been reported. In contrast to some other ectodermal dysplasia syndromes, the inheritance pattern in the EEC syndrome is difficult to determine. In most families, only one individual is affected. In other families, autosomal dominant inheritance seems likely; in these families affected parents have a 50% chance to pass the syndrome to their children. Other reports in the medical literature suggest autosomal recessive inheritance; in these families parents have a 25% chance of having another affected child. Prenatal diagnosis may be possible by transvaginal ultrasound (looking for structural defects with a sonogram). The gene responsible for the EEC syndrome has been identified, making it possible to confirm suspected diagnoses and adding to the possibility for prenatal diagnosis. Ron J. Jorgenson, DDS, PhD Retired Clinical Geneticist, Applied Genetics Update 04 The content of this document is for informational purposes only. Questions regarding specific patient issues should be directed to the appropriate professionals for resolution.