Achondroplasia, Causes, Signs and Symptoms, Diagnosis and Treatment.

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Chapters
0:00 Introduction
0:53 Causes of Achondroplasia
2:54 Symptoms of Achondroplasia
3:47 Diagnosis of Achondroplasia
4:34 Treatment of Achondroplasia
Achondroplasia is a genetic disorder whose primary feature is dwarfism.[3] In those with the condition, the arms and legs are short, while the torso is typically of normal length.[3] Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females.[3] Other features include an enlarged head and prominent forehead.[3] Complications can include sleep apnea or recurrent ear infections.[3] The disorder does not generally affect intelligence.[3]
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that results in its protein being overactive.[3] The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur.[6] About 80% of cases result from a new mutation, which originates in the father's sperm.[5] The rest are inherited from a parent with the condition.[3] The risk of a new mutation increases with the age of the father.[4] In families with two affected parents, children who inherit both affected genes typically die before birth or in early infancy from breathing difficulties.[3] The condition is generally diagnosed based on the symptoms but may be confirmed by genetic testing.[5]
Treatments may include support groups and growth hormone therapy.[5] Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required.[5] Life expectancy of those affected is about 10 years less than average.[5] Achondroplasia is the most common cause of dwarfism[4] and affects about 1 in 27,500 people.[3]

[@anthonytiminca9205]

great video man...thanks a ton!

[@localasian]

thank you for thevideo, can you pls tell me the book you referred to

[@paolacortez9274]

Creo q tengo esa enfermedad nunca me la an detectado me siento un fenómeno. El cuerpo muy largo y las piernas muyyy cortas 😢 ya fui al doctor y me dicen q 3stoy loca me mandan un sigquiatra

[@franzjosephaque2066]

Older fathers tend to have children with dwarfism.

[@myfriendsbiyabani6009]

Hello madam.
During pregnancy 5 month ...Which test know
the baby having dwarfism qualities during
pregnancy..
Amniosynthesis test can diagnos this type of
disorder or not ??
If not how to identify baby dont have dwarfism
qualities ..
Please reply for my question.

[@420everyminute3]

I think with achondroplasia you can tell by the ultrasound because they have a bigger head

[@420everyminute3]

I have something similar to this called hypochondroplasia.

[@MedicalCentric]

Sorry about that.

[@420everyminute3]

@@MedicalCentric Thanks

[@VISHALSHRESTHA-ud6nz]

Really bro??

[@VISHALSHRESTHA-ud6nz]

My Arms , Elbow bones are also tiny than others , Small fingers ,Head is big and height about 165 cm .. what I am disorder it could be???????

[@victorarvizu9529]

How helpful is the growth hormones?

[@Alboss-96]

Most of cases not make any difference

[@04sohada19]

Guidelines

[@christinechrissy]

Thank yu my baby has this type of dwarfism and i was wondering if growth hormones may help her grow

[@WhispersRoCloset]

Did they tell you your baby had small limbs, stomach and head ? They just told me today. We have to see the specialist Tuesday . I’m 4’9 and he’s 6’1 we are all over the place

[@drbushrakhan7026]

Did u find any help ?

[@christinechrissy]

@@drbushrakhan7026 nope

[@WaodTAli]

Did you find any help?
Please reply my question 💔

[@christinechrissy]

@@WaodTAli no I did not