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Achondrogenesis type 2

Field	Value
name	Achondrogenesis type 2
image	Autosomal dominant - en.svg
caption	Achondrogenesis type 2 has an autosomal dominant method of inheritance.
field	Medical genetics

Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births. Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.

Typically, achondrogenesis type II manifests in the perinatal period as short stature, edema/hydropic look, narrow chest with pulmonary hypoplasia, severely short limbs (micromelia), and extraskeletal characteristics (e.g., flat midface, Pierre Robin sequence). Most of these babies are stillborn, delivered before their due date, or pass away from cardiorespiratory failure soon after delivery, meaning that they do not live to term.

Signs and symptoms

The characteristic features of achondrogenesis type 2 are short arms and legs, a tiny chest with short ribs, lung hypoplasia, a small chin, a prominent forehead, and an enlarged abdomen that may also include hydrops, and polyhydramnios.

Causes

Mutations in the COL2A1 gene can cause a number of skeletal abnormalities, including achondrogenesis type 2. Instructions for producing a protein that produces type II collagen are provided by this gene. Type II collagen molecule assembly is disrupted by mutations in the COL2A1 gene, impairing the normal development of bones and other connective tissues.

Because achromogenesis type 2 is caused by a mutated gene that only needs one copy in each cell, it is regarded as an autosomal dominant disorder.

References

(2008). "Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias, 5th ed". Radiology.
Saldino, Ronald M.. (1971). "Lethal Short-Limbed Dwarfism: Achondrogenesis and Thanatophoric Dwarfism". American Journal of Roentgenology.
(2019-04-25). "Type II Collagen Disorders Overview". University of Washington, Seattle.
(2019-06-01). "Achondrogenesis type 2 in a newborn with a novel mutation on the ''COL2A1'' gene". Walter de Gruyter GmbH.
(2015-03-01). "Achondrogenesis: MedlinePlus Genetics".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

congenital-disorders collagen-disease rare-syndromes autosomal-dominant-disorders

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