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Clinical features of achondroplasia:
* nonproportional dwarfism (short stature)
* shortening of the proximal limbs (termed rhizomelic shortening)
* short fingers and toes
* a large head with prominent forehead
* small midface with a flattened nasal bridge
* spinal kyphosis (convex curvature) or lordosis (concave curvature)
* varus (bowleg) or valgus (knock knee) deformities
* frequent ear infections (due to Eustachian tube blockages), sleep apnea
(which can be central or obstructive), and hydrocephalus
* midface hypoplasia
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Wiki User
∙ 16y ago
Wiki User
∙ 14y ago- 80% of children born with Achondroplasia have average sized parents
- Effects 1 in about 25000 people
- Its depiction in ancient Egypt makes it one of the oldest recorded birth defects.
- Most people with Achondroplasia eventually reach an adult height of about4 feet.
- Occasionally a baby or young child with Achondroplasia may die suddenly often during sleep
- Parents have no other children with Achondroplasia, and the chances of their having a second affected child are extremely small
- Older-than-average fathers (age 40 and older) are more likely to have children with Achondroplasia
Wiki User
∙ 11y agoTt
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Who named achondroplasia?
Pierre Maroteaux
If a couple with normal phenotypes get married and have a child then what is the chance that the child will develope achondroplasia?
People with achondroplasia can be born to parents who don't have the condition. This is the result of a new mutations. New gene mutations leading to achondroplasia are associated with the paternal age effect (over 35 years old). Studies have demonstrated that new gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis.
Where does the word achondroplasia originate from?
Achondroplasia comes from the Greek word khondros(meaning "cartilage") and the Greek word plasis (meaning "moulding"). This is a befitting name for the disease as achondroplasia is a hereditary condition where the growth of cartilage in the long bones and skull is stunted, causing the bones to fuse too soon.
What type of point mutation is dwarfism?
One type of dwarfism that is a point mutation is achondroplasia.
Does achondroplasia effect any specific gender or race?
Occurs in all races and in both men and women with equal frequency
How much is medicines or hospitals for people with achondroplasia?
There are no medications for achondroplasia
How is achondroplasia diagnosed?
whats the name of the test that diagnoses achondroplasia
Do Ellie Simmonds parents have achondroplasia?
no Ellie Simmonds parents has not got achondroplasia
Is achondroplasia hereditary?
yes, achondroplasia is hereditary and if one of a parent has it you have 50% chance to inheriting it.
Is there a cure for achondroplasia?
No
Is anyone looking for a cure for achondroplasia?
Yes ,we are looking for a cure for achondroplasia. Please help! Amita
What is the heredity cause for achondroplasia?
Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).
Can you get achondroplasia with out having a parent that has it?
Yes People with achondroplasia can be born to parents that do not have the condition. This is the result of a new mutation.[2]
What is the name of the gene for Achondroplasia?
Achondroplasia is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene.
How was achondroplasia named?
ByPierre Maroteaux
Who named achondroplasia?
Pierre Maroteaux
Who was achondroplasia discovered by?
your mom and i in bed
