Other Genetic Conditions

Disorders of Notch signaling are a group of multisystem disorders that occur due to changes in Notch signaling pathways. These pathways are involved in organ formation and tissue function and repair during development. These disorders can affect multiple organs and can be associated with skeletal, neurologic, liver, heart, ocular, craniofacial, kidney, vascular and other organ system abnormalities.

Disorders of centrosome biology represent a group of genetic conditions that result from changes in genes causing abnormal function of centrosomes, leading to impaired microtubule organization and abnormal cell division. They can be associated with skeletal and craniofacial deformities and short stature. Meier-Gorlin syndrome, for example, is a genetic disorder associated with abnormalities in centrosome duplication, which causes a clinical triad of short stature, a small and malformed ear, and a hypoplastic or absent knee cap.

Disorders of the eukaryotic translation machinery represent a group of genetic diseases resulting from a defective translation mechanism and abnormalities in protein synthesis. They can be associated with microcephaly, intellectual disability, epilepsy, hypogenitalism, obesity, skeletal dysplasia, diabetes and liver dysfunction.

Inherited disorders of vesicular trafficking are a group of genetic disorders that result from the impaired vesicular delivery of proteins. They are often associated with microcephaly, intellectual disability, neurologic dysfunction, and hypotonia. Other abnormalities include developmental delay, visual impairment, neutropenia, recurrent infections, joint hypermobility, central nervous system abnormalities, cerebral dysgenesis, basal ganglia disease, seizures, spasticity, facial dysmorphism, keratoderma, ichthyosis and obesity, recurrent acute liver failure in certain diseases.

Aminoacyl tRNA synthetase (ARS) disorders are a group of multisystem genetic disorders resulting from changes in the genes for ARS enzymes. They can be associated with liver, lung, endocrine, central nervous system and gastrointestinal abnormalities.

Receiving a diagnosis of a rare genetic condition, or being at risk for or suspected of having one, can feel overwhelming, but learning more about the diagnosis can help you navigate treatment and care. Visit the links below to learn more about some of the different types of rare disorders, their causes, and associated symptoms as well as screening and treatment options. This list includes a selection of rare genetic conditions. Schedule a consultation with us for diagnosis and treatment options for these or any other rare conditions.