Diseases

Actinic keratosis

actinic keratosis

Basic Information

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Description: SNOMEDCT_US_2016_09_01:A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. It has been described in fewer than 15 patients. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm.|JABL99:Duplication of the short arm of chromosome 17 with delayed psychomotor development, craniofacial abnormalities (narrow downslanting palpebral fissures, microcephaly, hypertelorism, and malformed ears), digital anomalies, and other congenital defects. Expression varies with the karyotype.

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target disease8 Targets

B-Raf proto-oncogene, serine/threonine kinase

cyclin dependent kinase inhibitor 1A

lamin A/C