Disease, Vrolik’s


Disease, Vrolik’s
Osteogenesis imperfecta type II, an inherited connective tissue disorder with very severe bone fragility, the lethal form of “brittle bone disease.” 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. 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. 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).

Medical dictionary. 2011.

Look at other dictionaries:

  • Vrolik disease — Vro·lik disease (vroґlik) [Willem Vrolik, Dutch anatomist, 1801–1863] osteogenesis imperfecta (type II); see under osteogenesis …   Medical dictionary

  • Vrolik’s disease — Osteogenesis imperfecta type II, an inherited connective tissue disorder with very severe bone fragility, the lethal form of “brittle bone disease.” It is a recessive trait with males and females affected. Two copies of the mutant gene are needed …   Medical dictionary

  • Vrolik disease — osteogenesis imperfecta, type II …   Medical dictionary

  • Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия

  • Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q …   Wikipedia

  • Glasknochen — Klassifikation nach ICD 10 Q78.0 Osteogenesis imperfecta …   Deutsch Wikipedia

  • Glasknochenkrankheit — Klassifikation nach ICD 10 Q78.0 Osteogenesis imperfecta …   Deutsch Wikipedia

  • Osteogenesis imperfecta — Klassifikation nach ICD 10 Q78.0 Osteogenesis imperfecta …   Deutsch Wikipedia

  • Osteogenesis imperfecta type 2 — An inherited connective tissue disorder with extremely severe bone fragility. This is the lethal form of “brittle bone disease.” Osteogenesis imperfecta type 2 is a recessive trait with males and females affected. Two copies of the mutant gene… …   Medical dictionary

  • Liste der Syndrome — Diese Seite listet in alphabetischer Reihenfolge und ohne Anspruch auf Vollständigkeit Syndrome und Komplexe aus unterschiedlichen medizinischen Fachgebieten auf. Bitte nur Verweise auf den tatsächlichen Titel des Beitrags und keine… …   Deutsch Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.