About The Medical Condition Chondrodysplasia Punctata
Find the definition of the medical term Chondrodysplasia Punctata. Chondrodysplasia Punctata defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Chondrodysplasia Punctata
| Chondrodysplasia Punctata Medical Condition |
|---|
What's The Definition Of The Medical Condition Chondrodysplasia Punctata?
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Acute Necrotizing Encephalitis, Herpetic ‐ An acute (or rarely chronic) inflammatory process of the brain…
- Structural Myopathies, Congenital ‐ A heterogeneous group of diseases characterized by the early…
- West Syndrome, Symptomatic ‐ An epileptic syndrome characterized by the triad of infantile…
- Peptide, Signal ‐ Amino acid sequences found in transported proteins that selectively…
- Inorganic Chemistry ‐ A field of chemistry which pertains to chemical compounds or…
- Family Therapy ‐ A form of group psychotherapy. It involves treatment of more…
- Acute Vestibular Neuritides ‐ Idiopathic inflammation of the vestibular nerve, characterized…
- Canals, Pulp ‐ The space in a tooth bounded by the dentin and containing the…
- Neuropathy, Entrapment ‐ Mechanical compression of nerves or nerve roots from internal…
- Speech Articulation Test ‐ Tests of accuracy in pronouncing speech sounds, e.g., Iowa Pressure…