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.
No, achondroplasia is not caused by nondisjunction. Achondroplasia is a genetic disorder caused by a spontaneous mutation in a gene involved in bone growth. Nondisjunction is a genetic event that occurs during cell division and can lead to abnormal chromosome numbers in offspring.
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 was named by the French physician Gabriel Roux in 1878. The term is derived from the Greek words "a" (without), "chondro" (cartilage), and "plasia" (formation), reflecting the abnormal development of cartilage in affected individuals.
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.
Achondroplasia affects both genders and all races equally. It is a genetic disorder caused by a spontaneous mutation in the FGFR3 gene. The mutation can occur in any individual regardless of gender or race.
It come from the greek meaning of "without cartilage formation"
whats the name of the test that diagnoses achondroplasia
There are no medications for achondroplasia
no Ellie Simmonds parents has not got achondroplasia
Where does Thank you originate?
Yes, the word "bolshy" does originate from the "bolsheviks".
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).
The word 'suds' is believed to originate from the Middle Dutch word: sudse, meaning bog.
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