Skeletal

Question 1

group of genetic disorders that severely affect cartilage and bone development in unborn babies

Answer 1

Achondrogenesis

Question 2

a genetic condition affecting a protein in the body called the fibroblast growth factor receptor

Answer 2

Achondroplasia

Question 3

Bones in baby’s skull join together too early

Answer 3

Craniosynostosis

Question 4

the most common nonlethal skeletal dysplasia

Answer 4

Heterozygous Achondroplasia

Question 5

Thought to be uniformly lethal in the neonatal period

Answer 5

Homozygous Achondroplasia

Question 6

an inborn error of metabolism with a broad spectrum of clinical severity caused by loss of function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP)

Answer 6

Hypophosphatasia

Question 7

a genetic or heritable disease in which bones fracture (break) easily, often with no obvious cause or minimal injury

Answer 7

Osteogenesis Imperfecta

Question 8

a baby is born with one or more extra fingers

Answer 8

Polydactyly

Question 9

a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs

Answer 9

Thanatophoric Dysplasia