Stromme Syndrome Images, Meaning, Symptoms, Causes, Treatment
Stromme syndrome is an autosomal recessive congenital disorder. In this disorder, cornea of eye have an opacity like scar right in center which is responsible for problems in vision. Remaining eye is normal. Some people may have smaller eyes than usual and have iris maldevelopment. Pupil is also abnormal. Stromme syndrome was 1st discovered in 1993 when only a few members were reported with this syndrome. This syndrome have many synonyms like Apple peel syndrome, anomalies, CILD31, ciliary dyskinesia, jejunal atresia and ocular anomalies (include different amount of angle dysgenesis, corneal leukemia, hypoplasia, micro cornea, cataracts, anterior synechiae, sclera cornea and sometimes iris colobomas).
Stromme syndrome show some features of ciliopathy and lethality in childhood which can only be observed in severe condition. It is a genetic disorder and gene involved in this syndrome is CENPF gene). Stromme syndrome have some correlated clinical conditions like microcephaly (reduced skull size), vision impairment and bowel obstruction. This syndrome is considered a developmental disorder. It rarely occurs in people. Physicians have described this condition i.e. Hypertelorism and deep set eyes. Patient may suffer from many ocular diseases but glaucoma is not reported with stromme syndrome. This syndrome is highly complicated condition due to involvement of many systemic functions.
It is a genetic disorder which is caused by mutation in a specific gene (CENPF) 1q41. This mutation occur in both partners and as a result it will transfer to their children. There are 25 % chances that stromme syndrome will pass on to children from parents only if each parent have single mutation. This syndrome will transfer to every child with 25 % possibility of occurrence of this disease. Mutation in this autosomal recessive disorder means complete change of selective gene. This is the only cause behind stromme syndrome.
Stromme syndrome have many associated clinical characteristics so its symptoms are very vast. Main symptoms of stromme syndrome are as follows:
Low set ears, Hypertelorism, ear malformation, congenital anomaly of eye, hypo plastic mandible condyle, microcephaly, abnormality of skeleton system, abnormality of respiratory system, ciliary dyskinesia, hydrocephalus, cerebellar hypoplasia, corpus callosum agenesis, abnormality in nervous system, abnormality in digestive system due to involvement of intestine. Duodenal atresia, short columella, hypoplasic mandible condyle, cleft palate and last but not least abnormal head and neck i.e. head is smaller in size than usual and neck is longer than usual.
As stromme syndrome is a recessive congenital disorder which occur due to mutation in genes so it cannot be treated. Its associated conditions i.e. visual impairment, intestinal abnormalities and head abnormalities can be treated with medication therapy. In children, intestinal surgery is performed sometimes. Medications involved in treatment of stromme syndrome are as follows: Hormonal therapy involve letrozole, dopamine, estrogens, memantine and many more.
Hormone antagonists are also used. Analgesics, steroid synthesis inhibitors, anti HIV AIDS agent, protein kinase inhibitors etc. Other agents involved are anti-infective agents to avoid occurrence of infections which include anti-microbial and anti-viral.
Stromme syndrome show some features of ciliopathy and lethality in childhood which can only be observed in severe condition. It is a genetic disorder and gene involved in this syndrome is CENPF gene). Stromme syndrome have some correlated clinical conditions like microcephaly (reduced skull size), vision impairment and bowel obstruction. This syndrome is considered a developmental disorder. It rarely occurs in people. Physicians have described this condition i.e. Hypertelorism and deep set eyes. Patient may suffer from many ocular diseases but glaucoma is not reported with stromme syndrome. This syndrome is highly complicated condition due to involvement of many systemic functions.
Stromme Syndrome Images
Stromme Syndrome Causes
It is a genetic disorder which is caused by mutation in a specific gene (CENPF) 1q41. This mutation occur in both partners and as a result it will transfer to their children. There are 25 % chances that stromme syndrome will pass on to children from parents only if each parent have single mutation. This syndrome will transfer to every child with 25 % possibility of occurrence of this disease. Mutation in this autosomal recessive disorder means complete change of selective gene. This is the only cause behind stromme syndrome.
Stromme Syndrome Symptoms
Stromme syndrome have many associated clinical characteristics so its symptoms are very vast. Main symptoms of stromme syndrome are as follows:
Low set ears, Hypertelorism, ear malformation, congenital anomaly of eye, hypo plastic mandible condyle, microcephaly, abnormality of skeleton system, abnormality of respiratory system, ciliary dyskinesia, hydrocephalus, cerebellar hypoplasia, corpus callosum agenesis, abnormality in nervous system, abnormality in digestive system due to involvement of intestine. Duodenal atresia, short columella, hypoplasic mandible condyle, cleft palate and last but not least abnormal head and neck i.e. head is smaller in size than usual and neck is longer than usual.
Stromme Syndrome Treatment
As stromme syndrome is a recessive congenital disorder which occur due to mutation in genes so it cannot be treated. Its associated conditions i.e. visual impairment, intestinal abnormalities and head abnormalities can be treated with medication therapy. In children, intestinal surgery is performed sometimes. Medications involved in treatment of stromme syndrome are as follows: Hormonal therapy involve letrozole, dopamine, estrogens, memantine and many more.
Hormone antagonists are also used. Analgesics, steroid synthesis inhibitors, anti HIV AIDS agent, protein kinase inhibitors etc. Other agents involved are anti-infective agents to avoid occurrence of infections which include anti-microbial and anti-viral.
Stromme Syndrome Images, Meaning, Symptoms, Causes, Treatment
Reviewed by Simon Albert
on
July 28, 2019
Rating:
Reviewed by Simon Albert
on
July 28, 2019
Rating:
