Ehlers-Danlos syndrome type IX; X-Linked Cutis Laxa
This condition is inherited in an X-linked recessive manner.
Specialty
Endocrinology
Complications
Aortic aneurysms
Medication
Droxidopa, copper-histidine injections
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome,[1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.[2][3]
Only about 2/3 of children with OHS are thought to have genetically inherited the disorder; the other 1/3 do not have the disease in their family history. Since the disorder is X-linked recessive the disease affects more males. This is because they do not have a second X chromosome, unlike females, so essentially are lacking the 'backup' copy with proper function. Females are much more likely to be carriers only. For a female to be affected they must carry two defective X chromosomes, not just one.[4]
The disorder is considered a milder variant of Menkes disease.[5]
^Online Mendelian Inheritance in Man (OMIM): 304150
^Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel (ed.). Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11. ISBN 978-94-007-7499-5. PMID 24470097.
Occipitalhornsyndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, is an X-linked recessive mitochondrial and connective tissue disorder...
symptom of copper transport disorders such as Menkes disease and occipitalhornsyndrome. Rubbing the hair up towards the scalp does not cause split ends...
intestinal barrier due to ATP7A deficiency (Menkes disease and Occipitalhornsyndrome) Delivery of copper into the lumen of the ER-Golgi network is absent...
one of a pair of cerebral arteries that supply oxygenated blood to the occipital lobe, part of the back of the human brain. The two arteries originate...
lysyl oxidase activity have been implicated in Menkes disease and occipitalhornsyndrome, two X-linked recessive disorders characterized by a mutation in...
option as cutis laxa does not generally involve vascular fragility. Occipitalhornsyndrome List of cutaneous conditions Lipodystrophy Rapini RP, Bolognia...
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth...
OHS may refer to: Obesity hypoventilation syndromeOccipitalhornsyndrome Occupational safety and health Occupational Health Science, a scholarly journal...
(1998). "Metabolic and molecular bases of Menkes disease and occipitalhornsyndrome". Pediatric and Developmental Pathology. 1 (1): 85–98. doi:10.1007/s100249900011...
cephalic disorder involving the disproportionate enlargement of the occipitalhorns of the lateral ventricles and is usually diagnosed early after birth...
second order neurons synapse in the LGN. The visual cortex located in the occipital lobe of the brain is that part of the cerebral cortex which processes...
forebrain. The occipital lobe sits directly above the cerebellum and is situated posterior to the Parieto-occipital sulcus, or parieto-occipital sulcus. This...
cord is a continuation of the brainstem and anatomically begins at the occipital bone, passing out of the foramen magnum and then enters the spinal canal...
then described as pes hippocampi major, with an adjacent bulge in the occipitalhorn, described as the pes hippocampi minor and later renamed as the calcar...
visual cortex in the occipital lobe. In the event of involvement of the sympathetic tracts in the brainstem, a partial Horner'ssyndrome may develop; this...
Handler, Michael H.; Mirsky, David M. (November 2017). "Frontal and occipitalhorn ratio is associated with multifocal intraparenchymal hemorrhages in...
stylohyoid ligament in a condition known as Eagle syndrome. Occipitomastoid suture. It separates occipital bone and mastoid portion of temporal bone. Squamosal...
like a shallow dish. The occipital bone overlies the occipital lobes of the cerebrum. At the base of skull in the occipital bone, there is a large oval...
gyrus. Superiorly by the intraparietal sulcus. Posteriorly by the parieto-occipital sulcus. Inferiorly the angular gyrus of the parietal lobe is continuous...
Global Information
