John Morton Aase

Definition

John Morton Aase is a rare genetic disorder characterized by the presence of multiple congenital abnormalities, particularly affecting the facial features, limbs, and skeletal system. It is named after the American geneticist John M. Aase, who first described and classified the condition in 1968.

Facial Features

Individuals with John Morton Aase typically have a distinct facial appearance, including a small jaw (micrognathia), a flat or sunken nasal bridge, widely spaced eyes (hypertelorism), a small mouth, and low-set ears. These facial abnormalities may vary in severity among affected individuals.

Limb Abnormalities

John Morton Aase is characterized by the presence of limb abnormalities, such as underdeveloped or absent thumbs, forearm and elbow abnormalities, and limited range of motion in the joints. Some individuals may also have additional skeletal abnormalities, including malformation or absence of certain bones.

Other Features

In addition to facial and limb abnormalities, individuals with John Morton Aase may exhibit other features, including intellectual disability, developmental delays, and hearing loss. They may also have feeding difficulties and may experience growth deficiencies.

Genetics

John Morton Aase syndrome is thought to be primarily caused by genetic mutations, although the exact genes involved have not been identified. In most cases, the syndrome appears to be sporadic, occurring randomly for unknown reasons. Rare instances of familial cases have also been reported.

Although there is no cure for John Morton Aase syndrome, management primarily focuses on symptomatic treatment and support to address the specific abnormalities and associated medical conditions. Multidisciplinary care involving various specialists is typically required to ensure the best possible quality of life for affected individuals.