To install click the Add extension button. That's it.

The source code for the WIKI 2 extension is being checked by specialists of the Mozilla Foundation, Google, and Apple. You could also do it yourself at any point in time.

4,5
Kelly Slayton
Congratulations on this excellent venture… what a great idea!
Alexander Grigorievskiy
I use WIKI 2 every day and almost forgot how the original Wikipedia looks like.
Live Statistics
English Articles
Improved in 24 Hours
Added in 24 Hours
What we do. Every page goes through several hundred of perfecting techniques; in live mode. Quite the same Wikipedia. Just better.
.
Leo
Newton
Brights
Milds

Greig cephalopolysyndactyly syndrome

From Wikipedia, the free encyclopedia

Greig cephalopolysyndactyly syndrome
Patient with Greig cephalopolysyndactyly syndrome showing hypertelorism and macrocephaly.

Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux).[1]

YouTube Encyclopedic

  • 1/5
    Views:
    81 103
    72 863
    10 811
    21 830
    122 197
  • Cracking the Code: Understanding Rare Chromosome Disorders
  • Reconsidering beauty | Jill Helms | TEDxStanford
  • Smith-Lemli-Opitz Syndrome - CRASH! Medical Review Series
  • Pierre Robin Sequence - CRASH! Medical Review Series
  • Gene mutation

Transcription

Presentation

The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay.[1]

Pathophysiology

Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance.
Finger with syndactyly of many digits caused by Greig cephalopolysyndactyly.

Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.[1]

Different genetic changes involving the Gli3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality, such as a large deletion or translocation of genetic material, in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.[1]

This condition is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and only one copy of the defective GLI3 gene is sufficient to cause the disorder. In cases of dominant inheritance, an affected person inherits the genetic mutation or chromosomal abnormality from one affected parent.[1]

Rare instances of this disorder are sporadic, and occur in people with no history of the condition in their family.[1]

The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.

Diagnosis

The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and hypertelorism. However, a definitive diagnosis can be made if there is a phenotype that is caused by a Gcps and a Gli3 gene mutation. It can also be made if the person has a family member or relative with the disease. Possibly, antenatal ultrasound can detect macrocephaly, and a high-resolution ultrasound can detect polydactyly and syndactyly. There are a lot of differential diagnoses, including over 100 syndromes and disorders that can cause polydactyly. However, there are a few diseases with an overlap that is significant. These diseases include: acrocallosal syndrome, carpenter syndrome, and Gorlin syndrome. [1]

Management

The main treatment is surgery to fix the abnormalities in the limbs, like syndactyly. It is less important to repair the feet surgically, as it can cause complications, and it is not aesthetically important compared to the hands. If there is polydactyly with an extra digit that is fully functional, then the digit can stay. Some people may have intellectual disability, though this condition usually causes only mild impairment. Developmental assistance and early specialist intervention should be offered in the case of intellectual disability. People should be tested as an individual and be given proper assistance.[1]

Prognosis

The outlook is usually good in the usual case of GCPS. Mostly, the biggest problem associated with the condition in mild intellectual impairment.[citation needed]

Eponym

The condition is named for David Middleton Greig FRSE.[2]

References

  1. ^ a b c d e f g h Biesecker, Leslie G. (2008-04-24). "The Greig cephalopolysyndactyly syndrome". Orphanet Journal of Rare Diseases. 3 (1): 10. doi:10.1186/1750-1172-3-10. ISSN 1750-1172. PMC 2397380. PMID 18435847.
  2. ^ synd/1859 at Who Named It?

External links

This page was last edited on 25 March 2024, at 18:15
Basis of this page is in Wikipedia. Text is available under the CC BY-SA 3.0 Unported License. Non-text media are available under their specified licenses. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc. WIKI 2 is an independent company and has no affiliation with Wikimedia Foundation.