In a recent Facebook post, Mummy Rainne talks about her daughter who was born with a rare disorder known as Apert syndrome. As a result of the genetic disorder, her daughter has “gloved hands, feet, a slightly bigger head, and big eyes.”
She recalls an incident at a mall, where a little boy ran to his mum, crying because he got scared of the appearance of Rainne’s daughter. Because of the incident, Rainne decided to appeal to her fellow mums on the group to explain to their kids that there are kids like her daughter, who may be different in appearance, but are just like them.
“Even if she doesn’t look like the other kids, she’s sweet, funny, and really friendly,” she writes in the post.
Kids and parents alike may not know much about the disorder, as it is rare, but it’s important for there to be more awareness about this condition and others like it. So here’s what you need to know.
What is Apert syndrome?
Apert syndrome is a rare genetic disorder that hinders the normal development of the skull, causing early fusion of the skull’s bones or what is known as craniosynostosis.
In babies, this disorder results in distortion of the face and head, which is apparent even at birth. Most of those born with the condition may also suffer other types of birth defects.
What causes Apert syndrome?
This genetic disorder is caused by a mutation of the gene that controls protein production as well as bone cells and development in utero.
This gene is also known as the FGFR2 (fibroblast growth factor receptor 2) gene. It can happen randomly as the baby develops in the womb or it can also passed on from one parent.
What are the signs and symptoms of Apert syndrome?
Aside from a distorted head and face, their heads can also be shaped in this way:
- elongated and pointed towards the top
- more elongated than normal
- narrowed from face to back of the head
- wide from ear to ear
- flattened back of the head
- protruding forehead
Other symptoms to watch out for are:
- bulging eyes
- eyes set far apart
- crossed eyes
- beaked or hooked nose
- face is sunken in
- nose is flattened
- shrunken upper jaw
- underbite
- uneven teeth
- crowded teeth
- extra fingers or toes
- stiffening of the finger joints
- webbing or fusing of fingers and toes
- wide or short fingers or toes
- profuse or heavy sweating
- severe acne
- bald spots on eyebrows
- cleft palate
- noisy breathing
Is there a cure?
Though there is no cure for Apert syndrome, surgery has been found to be helpful in correcting the deformities that arise with the condition.
In some cases, surgery may be needed to relieve the symptoms of hydrocephalus, which involves draining fluid from the skull.
What complications arise from this condition?
A baby with Apert syndrome may develop vision, hearing, breathing, learning, and growth problems.
It can be diagnosed even before the baby is born through foetoscopy or ultrasound. After birth, CT scans or MRI can further confirm the diagnosis.
*This article first appeared on theAsianparent Philippines
sources: Healthline, Genetics Home Reference, National Organization of Rare Disorders
Featured image: Wikimedia commons
READ: Baby with Apert syndrome in Singapore badly in need of help
