About vrolik disease (type ii)

What is vrolik disease (type ii)?

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complications. Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits.

What are the symptoms for vrolik disease (type ii)?

Clinically the disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures This disease (also called osteogenesis imperfecta congenita) is usually not compatible with life. The children are usually stillborn or die of respiratory failure in early infancy.

What are the causes for vrolik disease (type ii)?

It is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. The condition results from mutations that impair the production of type I collagen, a key component of connective tissue. Mutations responsible for osteogenesis imperfecta type II have been identified in both the COL1A1 and COL1A2 genes. (COL1A1 is the gene for type 1 alpha-1 chain of collagen (COL1A1) and is located in chromosome17q21.31-q22.05. COL1A2 is the gene for type 2 alpha-chain of collagen (COL1A2) which is in chromosome 7q22.1).

What are the risk factors for vrolik disease (type ii)?

Vrolik's disease (type ii) or Osteogenesis imperfecta type II, an inherited connective tissue disorder with very severe bone fragility, the lethal form of "brittle bone disease."

1. It is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. Clinically the disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels soft spots, blue sclerae whites of the eyes, small nose, low nasal bridge, inguinal hernia, and numerous bone fractures at birth.
2. There is a bowing of limbs due to multiple fractures. This disease (also called osteogenesis imperfecta congénita) is usually not compatible with life. The children are usually stillborn or die of respiratory failure in early infancy.
3. The condition results from mutations that impair the production of type I collagen, a key component of connective tissue. Mutations responsible for osteogenesis imperfecta type II have been identified in both the COL1A1 and COL1A2 genes.
4. Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carries one copy of the altered gene. Types VI through XVIII follow this pattern of inheritance.
5. Osteogenesis imperfecta type XIX is inherited in an x-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition.
6. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Symptoms
Inherited connective tissue disorder with very severe bone fragility
Conditions
Very severe bone fragility
Drugs
Symptomatic treatment and calcium supplements

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