What is Hypochondrogenesis?
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs.
Is there any treatment for achondrogenesis?
Treatment of achondrogenesis is symptomatic and supportive and involves palliative care, in which physicians attempt to reduce or minimize pain, stress and specific symptoms associated with the disorder. Genetic counseling is recommended for families with an affected child.
Can you have mild skeletal dysplasia?
This skeletal dysplasia is associated with mild-to-moderate short stature, waddling gait, and leg pain during childhood. The radiographic abnormalities include metaphyseal irregularities, mild spinal changes,93 and enlarged capital femoral epiphysis in early childhood.
What is a skeletal dysplasia?
Skeletal dysplasia is the medical term for a group of about 400 conditions that affect bone development, neurological function and cartilage growth, including its most common form, achondroplasia.
Can you survive with achondrogenesis?
Prognosis. Most infants with achondrogenesis have severely underdeveloped lungs which leads to serious breathing problems and lung failure. Most die before or shortly after birth because of the severity of this disorder.
Can people live with achondrogenesis?
As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.
What does a baby with skeletal dysplasia look like?
If your child is born with skeletal dysplasia, they will have abnormal differences in the size and shape of their legs, arms, trunk, or skull. They may be very short in stature. They may also have arms and legs that aren’t in normal proportion with the rest of their body. Skeletal dysplasia is a genetic condition.
What can I expect from skeletal dysplasia?
Not all skeletal dysplasias are suspected prenatally. After birth, symptoms that might raise concern for a possible skeletal dysplasia include short stature (height), atypical body proportions, waddling gait (abnormal walking pattern), leg bowing, decreased bone density, and hip or knee pain.
Can skeletal dysplasia be cured?
Though there is no cure for skeletal dysplasia, there are a wide range of different treatment options depending on type. As your child matures, growth hormone therapy may be appropriate. Orthopedic surgery may also be necessary.
Is hypochondroplasia treatable?
Hypochondroplasia is transmitted as an autosomal dominant trait affecting the FGFR3 gene on chromosome 4p16.3. There is currently no cure for this condition.