A member asked:

What exactly is achondroplasia? who was the person to discover it?

7 doctors weighed in across 2 answers
Dr. Nikolaos Zacharias answered

Specializes in Maternal-Fetal Medicine

Dwarfism.: Achondroplasia, the most common cause of nonlethal short limb dwarfism is characterized by macrocephaly (disproportionately large head) and rhizomelia (short proximal long bones in amrs/legs). Heterozygous individuals have a normal life span and normal intelligence. Homozygous achondroplasia is parinatally lethal. Incidence of nonlethal form:1:10, 000-1:30, 000. Typically de novo paternal mutations.

Answered 9/27/2017

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Dr. Heidi Fowler answered

Specializes in Psychiatry

Dr Zacharias gave a: description. The cause for Achondroplasia was discovered by Dr.John Wasmuth and his reserach team in 1994. However, dwarfism had been studied by a number of scientists prior to this.

Answered 11/28/2017

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