OBSOLETE: Uniparental disomy of chromosome 14

Uniparental disomy of chromosome 14 (UPD14) is an obsolete grouping term that previously encompassed conditions in which both copies of chromosome 14 are inherited from a single parent rather than one from each parent. This entry has been retired because the clinical presentations differ significantly depending on whether the uniparental disomy is maternal (maternal UPD14, also known as Temple syndrome, Orphanet 96184) or paternal (paternal UPD14, also known as Kagami-Ogata syndrome, Orphanet 96334). These are now classified as distinct disorders with different clinical features, prognoses, and management considerations. Maternal UPD14 (Temple syndrome) is characterized by prenatal and postnatal growth restriction, hypotonia, early onset of puberty, obesity, and mild intellectual disability. Paternal UPD14 (Kagami-Ogata syndrome) presents with a more severe phenotype including polyhydramnios, a characteristic bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, and significant feeding difficulties in the neonatal period. Both conditions result from disruption of imprinted gene expression on chromosome 14q32. Because this entry is obsolete, patients and clinicians should refer to the specific diagnoses of Temple syndrome or Kagami-Ogata syndrome for accurate clinical information, genetic counseling, and management guidelines. Treatment for both conditions is supportive and symptom-based, and may include growth hormone therapy, nutritional support, and monitoring for associated complications.

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