1. Chapter 1: Chromosome 1 y A Cell Nucleus 35,068 225 aa SHOXb Cytoplasm
DNA Sequence
Chromosome
35,068
Name of Protein y
Name of Gene
short stature homeobox
SHOXb
transcription
Amino acid sequence
mRNA
225 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
Disorder of bone growth grgowt
Condition/Disease
Lenger mesomelic dysplasia

2. Description of Langer mesomelic dysplasia
Symptoms and characteristics
displacement deformities of the hands and feet

3. Description of Langer mesomelic dysplasia
Who is affected? The incidence is less than 1/ Less than 50 cases have been reported so far.
Outlook or quality of life
There is no known cure. In selected patients orthopaedic surgery may be helpful to try to gain some functionality of severely impaired joints.
Life expectancy is normal
Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes. May also be suspected by ultrasound during the second trimester of gestation.
Researcher: VA

4. References