What are Schinzel or Acrocallosal Syndrome Symptoms Causes & Diagnosis: schinzel syndrome or Acrocallosal syndrome is a rare congenital disorder in which an individual has only partial corpus callosum or no corpus callosum. This is accompanied by malformations of the skull and face, and to some extent of the fingers or toes. The cause of this genetic disorder is unknown, and the severity of symptoms depends on individual characteristics.
The content of the article:
- Schinzel syndrome description
- Genetic profile
- Signs and Symptoms of Chinzel’s Syndrome
schinzel syndrome description
Acrocallosal syndrome was first described in 1979, and may also be referred to as schinzel syndrome. Subject to both men and women, the causes of the disorder are unknown.
The main characteristic of the syndrome is incomplete education (hypoplasia) or the complete absence (agenesis) of the corpus callosum. Appearance is usually the same type. This includes a bulging forehead, an abnormal increase in the distance between the eyes (hypertelorism), and a large head (macrocephaly).
Syndactylia or polydactyly of the fingers and toes is observed. Sometimes patients may have short upper lip, cleft palate, cysts that pass inside the skull (intracranial), hernia, or epilepsy may develop.
Less commonly, affected children have congenital heart defects, internal organs, or kidneys.
Moderate and severe mental retardation has been reported with Chinzel’s syndrome.
People usually show some form of low muscle tone (hypotension), and there may also be a delay or lack of motor activity and speech.
There is a wide range of functioning and symptoms in this disease, ranging from normal development to severe mental and motor inhibition.
The cause of schinzel syndrome is unknown. Single cases are possible, there are reports of several cases in families. Studies involving affected families suggest an autosomal recessive pattern of inheritance. This means that both parents carry a modified form of the gene and the affected child inherits both copies.
In accordance with this scheme, every child born in this family will have a 25% risk of being affected. To help determine which chromosomes or gene locations cause the syndrome, the acrclosis syndrome was compared with similar disorders. One disease in which these symptoms are present and there is a known genetic cause is Greig’s Syndrome . However, there is no genetic similarity between the two syndromes. To date, no specific genetic causes of schinzel syndrome are known, and the disease can only be determined by clinical symptoms.
schinzel syndrome extremely rare. This disorder may occur in the familial line or randomly. It affects men and women.
Signs and Symptoms of schinzel syndrome
At birth, people with schinzel syndrome have a characteristic pattern of developmental defects of the face and limbs. Appearance ranges from a slight cobweb between fingers or fingers to almost duplicating hands or feet. The frontal protrusion, the increased distance between the eyes and the enlarged head are the main features of the face.
X-ray examination will reveal the absence or incomplete formation of the corpus callosum and the presence of any cysts in the skull. The infant usually has a reduced muscle tone (hypotension). This can lead to drooling or feeding difficulties.
Hypotension may also contribute to slower growth and motor skills. Severe hypotension is usually associated with a form of mental retardation. Progress and functioning during the first year of life depend on the severity of the symptoms. A wide range of individual changes have been reported, and the degree of manifestation of symptoms in each child can be different.
Some children develop normally and will walk and talk within the normal age, while others may experience a delay or lack of certain motor actions. Mental retardation may be moderate or severe. Some children may develop seizure disorders. The degree and progression of mental retardation also varies with different people.
The diagnosis of schinzel syndrome is based initially on a different structure of the defects of the face and limbs. Computed tomography (CT) or a similar radiographic procedure of the head shows the absence of the corpus callosum.
Radiographs and X-rays can be taken to confirm violations of the fingers or toes and will determine the degree of fusion, ligation or duplication of numbers (fingers or toes).
Prenatal diagnosis may not be possible due to the variability of the condition. However, prenatal ultrasound can detect duplicate numbers (polydactyly) and cerebral malformations. This can be especially informative for a woman who already has an affected child, and whose risk of contracting another child is 25%.
Starting from infancy, physiotherapy can contribute to the development of motor skills and muscle tone. Surgery to remove excess fingers and release the merged fingers can improve movement and seizure, although muscle tone may remain poor.
Surgery to separate or remove affected toes can help with walking and comfort shoes. Antiepileptic therapy should be considered if seizure disorder develops.
Special education may be required, depending on the level of mental disorders.
Currently, there are no preventive measures for Chinzel’s syndrome , and the severity of symptoms and outcomes varies from person to person. It was found that the lifestyle of a person with Chinzel’s syndrome depends on the degree of mental retardation and muscle tone reduction, and not on the degree of malformations of the face and limbs.