7p22.1 microduplication syndrome
7p22.1 microduplication syndrome is a genetic disorder which is characterized by cranial and facial dysmorphisms, intellectual disability, and motor-speech delays. It is caused by a duplication of the p22.1 region of chromosome 7.
The symptoms of this syndrome are cranio-facial dysmorphisms such as macrocephaly, frontal bossing, low-set ears, hypertelorism, etc., intellectual disabilities, speech and motor delays, and heart, ocular, renal and skeletal defects.
Causes
This condition is caused by a 430 kB duplication of the p22.1 region of chromosome 7. This mutation is autosomal recessive, meaning that a baby would need 1 copy of a mutated gene from both parents in order to show symptoms of the disorder.
Epidemiology
Only 60 cases of 7p22.1 microduplication syndrome have been recorded in medical literature.