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Sveinsson chorioretinal atrophy, also known as Helicoid peripapillary chorioretinal degeneration or Atrophia areata, is a rare autosomal dominant genetic disorder characterized by progressive bilateral degeneration (atrophy) of the choroid and the retina and peripheral ocular fundus.

Rajab interstitial lung disease with brain calcifications is a rare autosomal recessive genetic disorder characterized by symptoms affecting multiple systems of the body, mainly the brain and the lungs.

Luscan-Lumish syndrome is a rare genetic disorder characterized by the presence of certain craniofacial dysmorphisms such as macrocephaly and frontal bossing, intellectual disabilities, physical overgrowth, speech delay, and variable behavioral abnormalities.

Signs and symptoms

The phenotype for this condition has been described as being highly variable, but the most commonly reported symptoms in individuals with this condition are intra-cranial calcifications on the basal ganglia and the cortex, slow growth, interstitial lung disease. Less common symptoms include abnormalities affecting the skeleton (e.g. osteopenia), the liver (e.g. liver disease), the kidneys (e.g. renal artery stenosis), and/or genitals (e.g. small scrotum), facial dysmorphisms (such as prominent cheeks), impaired development of motor skills, abnormal laboratory test findings (e.g. vitamin A and D deficiency), etc.

Individuals with this condition are characterized by the following characteristics:

Tall/short stature

Craniofacial dysmorphisms
- Macrocephaly
- Frontal bossing
- Long and large hands and feet
- Downward-slanting palpebral fissures
- Long nose
- Long face
- Mandible prominence
- Malar hypoplasia

Behavioral anomalies/problems
- Shyness/reduced levels of sociability
- Short attention span
- Speech delay
- Increased aggressiveness
- Frequent temper tantrums
- Compulsions

Comorbid conditions
- Intellectual disabilities
- Autism spectrum disorder
- Attention deficit hyperactivity disorder (ADHD)
- Anxiety disorder

Other features may include seizures (particularly those of the tonic-clonic type, joint hypermobility (most pronounced on the hands), syringomyelia, Chiari malformation, hypotonia, and, in female patients, menstrual cycle irregularities and polycystic ovary syndrome

Complications

Pre-natal complications include oligohydramnios, fetal asphyxia. Post-natal complications mainly center around the pulmonary and cerebral systems of the body, they include susceptibility to pneumonia, pulmonary fibrosis, restrictive ventilatory patterns, cardiac arrest, and ruptured aneurysm.

Causes

This condition is caused by mutations in either the FARSB gene or the FARSA gene.

The mutations are inherited following an autosomal recessive pattern, meaning that for a person to have this condition, they must have inherited one copy of a Rabaj disease-causing mutation from both of their parents.

This condition is caused by autosomal dominant mutations in the SETD2 gene, located in the 3rd chromosome. So far, around 20 variants in said gene have been found to be associated with Luscan-Lumish syndrome.