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.
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.
One type of dwarfism that is a point mutation is achondroplasia.
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 hypoplasiaFor the source and more detailed information concerning this subject, click on the related links section (Answers.com) indicated below.
Occurs in all races and in both men and women with equal frequency
ByPierre Maroteaux
There are no medications for achondroplasia
whats the name of the test that diagnoses achondroplasia
no Ellie Simmonds parents has not got achondroplasia
yes, achondroplasia is hereditary and if one of a parent has it you have 50% chance to inheriting it.
No
Yes ,we are looking for a cure for achondroplasia. Please help! Amita
Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).
Yes People with achondroplasia can be born to parents that do not have the condition. This is the result of a new mutation.[2]
Achondroplasia is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene.
yes some faous people have it. for example the guy named Josh Ryan Evans was bron with it and died at the age of 20. how sad
your mom and i in bed