Disease or Syndrome
temple syndrome
tem·ple syn·drome [ tem-puhl sin-drohm, -druhm ]
Definitions related to temple syndrome:
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Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height. Facial features include a broad forehead and short nose with a wide nasal tip, and the majority of patients have small hands and feet. However, many of the clinical features are nonspecific, making diagnosis difficult. In addition, isodisomy may uncover recessive disorders, which may influence the phenotype in maternal uniparental disomy of chromosome 14 (UPD14mat) cases (summary by Ioannides et al., 2014). (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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(maternal uniparental disomy chromosome 14 syndrome) A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.NCI ThesaurusU.S. National Cancer Institute, 2021
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