Mowat-Wilson Syndrome: Causes, Symptoms & Treatment

Mowat-Wilson syndrome is a rare, genetic developmental disorder with multiple symptoms. As part of the genetic defect, heart defects and brain developmental abnormalities present themselves in addition to facial, intestinal, and genital abnormalities. The disease, which is as yet incurable, can only be treated symptomatically. What is Mowat-Wilson syndrome? Mowat-Wilson syndrome is a rather recent … Mowat-Wilson Syndrome: Causes, Symptoms & Treatment

Chondral Ossification: Function, Role & Diseases

Chondral ossification refers to bone formation from cartilage tissue. Along with desmal ossification, it represents one of the two basic forms of bone formation. A well-known disorder of chondral ossification is achondroplasia (short stature). What is chondral ossification? Chondral ossification refers to the formation of bone from cartilage tissue. In contrast to desmal ossification, chondral … Chondral Ossification: Function, Role & Diseases

Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Chondrodyplasia punctata of the rhizomelic type is one of the congenital malformations. The disorder is characterized by a striking short stature. The patient’s life expectancy is severely shortened in this disease. What is chondrodyplasia punctata of the rhizomelic type? Chondrodyplasia punctata syndromes are a group of different diseases. All subtypes are genetic diseases with characteristic … Chondrodyplasia Punctata of the Rhizomelic Type: Causes, Symptoms & Treatment

Chondrodysplasia Punctata Type Sheffield: Causes, Symptoms & Treatment

Chondrodysplasia punctata type Sheffield represents a genetically determined form of skeletal dysplasia. It is characterized by calcifications of the feet and hands and facial abnormalities. It is a mild disease of the chondrodysplasia type. What is chondrodysplasia punctata type Sheffield? Chondrodysplasia punctata type Sheffield is one of the chondrodysplasias characterized by changes in cartilage tissue. … Chondrodysplasia Punctata Type Sheffield: Causes, Symptoms & Treatment

Dermotrichia Syndrome: Causes, Symptoms & Treatment

Dermotrichia syndrome is a disease that usually has genetic causes. Consequently, affected patients suffer from dermotrichia syndrome from birth. At the same time, previous observations show that the disease occurs on average only with low frequency in individuals. Dermotrichia syndrome is essentially characterized by three typical complaints. These are alopecia, ichthyosis and photophobia. What is … Dermotrichia Syndrome: Causes, Symptoms & Treatment

Desbuquois Syndrome: Causes, Symptoms & Treatment

Desbuquois syndrome is a rare and congenital osteochondrodysplasia. The leading symptom is severe short stature with spinal curvature and shortened extremities. In addition to physiotherapeutic measures, surgical correction procedures are primarily used for treatment. What is Desbuquois syndrome? Osteochondrodysplasias are the disease group of skeletal dysplasias and cartilage dysplasias. These tissue defects include Desbuquois syndrome, … Desbuquois Syndrome: Causes, Symptoms & Treatment

Progressive Pseudorheumatoid Arthropathy: Causes, Symptoms & Treatment

Progressive pseudorheumatoid arthropathy is a very rare rheumatoid-like disease that begins in childhood. However, rheumatic inflammatory factors are not found. The disease is due to impaired growth of cartilage bodies. What is progressive pseudorheumatoid arthropathy? There are several other alternative names for progressive pseudorheumatoid arthropathy. Progressive pseudorheumatoid arthropathy begins in childhood. First symptoms may appear … Progressive Pseudorheumatoid Arthropathy: Causes, Symptoms & Treatment

Childhood

Introduction Nowadays the term “short stature” is used because of the negative connotation of the word “short stature”. This describes that a person is below the 3rd percentile of the growth rate – i.e. less than 97% of all persons in his age group. Children whose parents are also very small do not fall under … Childhood

Adolescence syndrome | Childhood

Adolescence syndrome A “short stature or small stature syndrome” does not exist. There are various syndromes, i.e. combinations of symptoms or phenomena, which comprise a short stature. The best known syndromes are the Ulrich Turner syndrome (see description for further symptoms), trisomy 21, Prader Willi syndrome or Noonan syndrome. All these syndromes include dwarfism as … Adolescence syndrome | Childhood