Silver-Russell Syndrome: Causes, Symptoms & Treatment

Silver-Russell syndrome (RSR) represents a very rare syndrome that is characterized by prenatal growth disturbances with the development of short stature. So far, only about 400 cases of the disease have been documented. The presentation is highly variable, suggesting that it is not a uniform disorder. What is Silver-Russell syndrome? Silver-Russell syndrome is characterized by … Silver-Russell Syndrome: Causes, Symptoms & Treatment

Oto-spondylo-megaepiphyseal Dysplasia: Causes, Symptoms & Treatment

Oto-spondylo-megaepiphyseal dysplasia is a mutation-related skeletal dysplasia. Patients suffer lead symptomatically from defects of bone and cartilage tissue and sensorineural hearing loss. Treatment is purely symptomatic and usually includes pain management. What is oto-spondylo-megaepiphyseal dysplasia? Skeletal dysplasias are congenital disorders of bone or cartilage tissue and are also known as osteochondrodysplasias. A myriad of disorders … Oto-spondylo-megaepiphyseal Dysplasia: Causes, Symptoms & Treatment

Progeny: Causes, Symptoms & Treatment

Progenia is a disease of the jaw. In this case, this is misaligned (dysgnathia). Characteristic of a progenia is a reverse overbite of the incisors (so-called frontal crossbite). What is progenia? In dentistry, the term progenia is used to describe a massive malocclusion of the jaw. Since the term is increasingly perceived as misleading because … Progeny: Causes, Symptoms & Treatment

Nasality Disorder: Causes, Symptoms & Treatment

Nasality disorders are hyper- or hyponasality and manifest themselves accordingly in open or closed nasal passages. In addition to organic causes such as inflammation, clefts, or tumors in the oropharynx, functional causes may be responsible for nasality disorder. Therapy consists of causative treatment and exercise therapy steps to direct the articulation airflow. What is a … Nasality Disorder: Causes, Symptoms & Treatment

Meckel-Gruber Syndrome: Causes, Symptoms & Treatment

Meckel-Gruber syndrome (FMD) is an inherited disorder. It is characterized by the most severe congenital disabilities. Affected newborns usually die within the first two weeks after birth. What is Meckel-Gruber syndrome? Meckel-Gruber syndrome is an inherited disorder characterized by kidney cysts, developmental abnormalities, and central nervous system disorders. The condition is also known as Meckel … Meckel-Gruber Syndrome: Causes, Symptoms & Treatment

Wolf-Hirschhorn Syndrome: Causes, Symptoms & Treatment

The medical profession defines Wolf-Hirschhorn syndrome as a symptom complex consisting of various malformations. The syndrome occurs due to a structural abnormality of chromosome four, which usually corresponds to a new mutation. The disease is incurable and can therefore only be treated symptomatically. What is Wolf-Hirschhorn syndrome? Wolf-Hirschhorn syndrome or Wolf syndrome is a genetically … Wolf-Hirschhorn Syndrome: Causes, Symptoms & Treatment

Carey-Fineman Ziter Syndrome: Causes, Symptoms & Treatment

Carey-Fineman-Ziter syndrome is a malformation syndrome characterized by decreased muscle tone and is inherited in an autosomal recessive manner. Since only 20 cases have been documented since the initial description, the cause of the disorder has not yet been determined. A causal therapy for the syndrome does not yet exist. What is Carey-Fineman ziter syndrome? … Carey-Fineman Ziter Syndrome: Causes, Symptoms & Treatment

Holoprosencephaly: Causes, Symptoms & Treatment

Holoprosencephaly is a malformation of the human brain that occurs with relatively high frequency. A large proportion of affected embryos die in the womb. Therefore, only a few patients with holoprosencephaly are born alive. Holoprosencephaly forms prenatally and primarily affects the face and the frontal area of the brain. What is holoprosencephaly? Holoprosencephaly is relatively … Holoprosencephaly: Causes, Symptoms & Treatment