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'''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]]. |
'''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]]. |
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'''Luscan-Lumish syndrome''' is a rare [[genetic disorder]] characterized by [[macrocephaly]], [[intellectual disabilities]], physical overgrowth, [[speech delay]], and variable behavioral abnormalities. |
'''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. |
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== Signs and symptoms == |
== Signs and symptoms == |
Revision as of 17:27, 15 May 2023
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 as being less sociable than other people,
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.
Diagnosis
Treatment
Epidemiology
See also
References
Potential references
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85195
https://rarediseases.info.nih.gov/diseases/9168/index
https://rarediseases.org/gard-rare-disease/polyostotic-osteolytic-dysplasia-hereditary-expansile/
https://www.omim.org/entry/108985#9
https://www.genome.jp/dbget-bin/www_bget?H01180
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86813
www.ncbi.nlm.nih.gov/books/NBK475801/&ved=2ahUKEwi32fm26vv8AhUhO0QIHRtsCikQFnoECAgQAQ&usg=AOvVaw1nWn2B2Y9cmo9n83RFuCx5
....
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https://www.ncbi.nlm.nih.gov/medgen/462260
https://www.uniprot.org/diseases/DI-05269
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178506