Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. [2]

Jul 26, 2024 · Primrose syndrome is a rare genetic condition characterized by intellectual disability, developmental delay, behavioral problems and a distinctive calcification of the outer ear, as well as a large head (macrocephaly), low muscle tone (hypotonia), recognizable facial features, X-ray (radiographic) features and altered glucose metabolism such as ...

Primrose syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

May 6, 2021 · Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism.

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down‐slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting.

Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism.

Mar 17, 2025 · Explore the genetic and clinical aspects of Primrose syndrome, along with current diagnostic methods and management strategies for this rare condition.

Feb 18, 2020 · Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic ...

Jun 17, 2021 · Clinical characteristics: Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism.

Primrose Syndrome is an exceedingly rare genetic disorder that presents with a complex array of symptoms affecting multiple body systems. Understanding the underlying causes, identifying the symptoms, and considering the treatment options are crucial steps in …