Apert syndrome

What is Apert Syndrome?

Apert syndrome is a condition where the bones of the skull fuse together during pregnancy. This affects the shape of the child's head, face, and possibly their fingers/ toes.



Who Discovered Apert Syndrome? Where, when and under what circumstances was it discovered?
Apert Syndrome was first discovered by a man named Eugene Apert. He is said to have discovered this in 1906 when he described 9 individuals all sharing a common features. All of these people he “described” were suffering from acrocephalosyndactyly.
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What are the symptoms/ characteristics associated with this disorder?
Symptoms of Apert syndrome include characteristics such as eyes that are wide and bulge outwards, an underdeveloped jaw, a cone- shaped head, beaked nose, and the fusion together of bones. Most commonly fingers and toes which is called syndactyly. Also, due to their face shape, some children may experience problems with teeth or vision.
Additional Symptoms:
  • Heavy sweating
  • Missing hair in eyebrows
  • A cleft palate
  • Severe acne
  • Oily skin
  • Loss of hearing
  • Fusion of bones in neck
  • Growth delays
  • Development delays
  • Regular ear infections
  • Mild to moderate learning disorders
  • Extra fingers ect.
Image result for apert syndrome
Image result for apert syndrome
Image result for apert syndrome
Image result for apert syndrome
Image result for apert syndrome
Image result for apert syndrome

At what age do the symptoms begin?
People who have Apert Syndrome are born with the birth abnormality.

Are the symptoms treatable?
If so, how?
Treatments for Apert Syndrome depend on the doctor. Sometimes a doctor will suggest a pressure reducing surgery on the patient. Mostly to reduce pressure on the patient's brain. They would do this by separating the defused bones and partially re-arranging them. This surgery is most commonly done with children between the ages of 6 and 8 months old. Other surgeries include…
*Plastic surgery
*finger/Toe separators
*Correction of Vision
*Dental Procedures
Image result for apert syndrome
Image result for apert syndrome
Image result for apert syndrome
Image result for apert syndrome




Is the disorder fatal?
The life expectancy of people who have Apert Syndrome, professionals say to be normal. However, complications with surgeries can be fatal or life altering.
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What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other?
  • Apert syndrome is inherited in an autosomal dominant pattern. One copy of the altered gene in each cell is enough to cause the disorder.

  • It can be both inherited by a parent, or if the family as no history of Apert Syndrome, the child can be a random case.

Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)
There are no known sources to answer this question.

How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex?
The chances of having a child with Apert Syndrome is very unlikely if both parents have no history of the disorder. But, if one parent has the disorder than the chances are 50:50 regardless of the location or sex.

What tests are done to confirm a diagnosis of this disorder?
Suspected during pregncency, specificly in the second trimester of the childs development. Ultrasound examination of the fetus can include examining the skull shape and extremities.

Example:” In1 case there was increased nuchal translucency with a normal fetal karyotype in the first-trimester. In all cases, a mutation of the FGFR2 gene confirmed the diagnosis of Apert syndrome. 3D ultrasound was used to show parents the extent of the abnormalities of the skull, face and extremities” (https://www.ncbi.nlm.nih.gov/pubmed/17497749).
Image result for ultrasound child with apert syndrome
Image result for ultrasound child with apert syndrome
Image result for ultrasound apert syndrome
Image result for ultrasound apert syndrome

Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.?
  • Apert Syndrome is caused by a mutation in the FGFR2 gene.
  • The FGFR2 gene produces a protein called fibroblast growth factor receptor 2.
  • "This protein has many important roles in a fetus' development, including a key role in signaling bone cell development"
    When mutation is happening, the "FGFR2 continues to signal for longer than usual, leading to early fusion of the skull, facial, feet, and hand bones”.
  • (https://www.medicalnewstoday.com/articles/320907.php).
  • This happens during embryonic development.




Vocabulary:


Acrocephalosyndactyly is an inherited disorder that causes deformity with the skull, face, and hands.
"Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected equally"(https://www.medicinenet.com/script/main/art.asp?articlekey=6574).

Syndactyly is a condition where a few or all toes can fuse together to create a web like appearance. The same applies with fingers. Either a few or all fingers will fuse together.

Work cited:


1. https://ghr.nlm.nih.gov/condition/apert-syndrome

2. http://www.whodiscoveredit.com/who-discovered-apert-syndrome.html

3. http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/apert-syndrome/

4. https://www.medicalnewstoday.com/articles/320907.php

5. http://www.faces-cranio.org/Disord/Apert.htm

6.https://rarediseases.org/rare-diseases/apert-syndrome/