Greig syndrome is a medical term for a congenital malformation syndrome associated primarily with facial deformities and multi-jointedness of the fingers and toes. Although the hereditary syndrome cannot be cured, it can be treated surgically. Patients with the mutation-related disease are considered to have an excellent prognosis. What is Greig syndrome? Greig syndrome is also … Greig Syndrome: Causes, Symptoms & Treatment
Baller-Gerold syndrome belongs to the group of malformation syndromes with predominant involvement of the face. The syndrome is due to mutations and is passed on in an autosomal dominant inheritance. Therapy is limited to symptomatic treatment, which consists largely of surgical correction of the malformations. What is Baller-Gerold syndrome? In the disease group of congenital … Baller-Gerold Syndrome: Causes, Symptoms & Treatment
Acrorenal syndrome is a group of disorders associated with malformations of the kidneys and limbs. Acrorenal syndrome exists in affected individuals from birth and is characterized by an autosomal recessive mode of inheritance. Acrorenal syndrome is relatively rare. What is acrorenal syndrome? Acrorenal syndrome is a hereditary condition that results in malformations of the limbs … Acrorenal Syndrome: Causes, Symptoms & Treatment
Oligohydramnios sequence represents the description of the effects of insufficient amniotic fluid production. These are severe malformations that develop due to low amniotic fluid volumes during embryogenesis. The condition is fatal. What is an oligohydramnios sequence? Oligohydramnios sequence refers to the effects of insufficient amniotic fluid production during pregnancy. Due to constricted space because of … Oligohydramnios Sequence: Causes, Symptoms & Treatment
Nasal polyps are pathological changes in the mucous membranes of the sinuses. If treated early, control is usually successful. What are nasal polyps? Schematic diagram showing the anatomy of the nose in nasal polyps. Click to enlarge. Nasal polyps are benign growths or growths of the mucosa that protrude into the nasal cavity from the … Nasal Polyps: Causes, Symptoms & Treatment
LEOPARD syndrome is closely related to Noonan syndrome and is characterized by dermal and cardiac malformations that may be associated with symptoms such as deafness and retardation. The cause of the syndrome is a mutation in the PTPN11 gene. Treatment of affected individuals is symptomatic and focuses primarily on the cardiac defect. What is LEOPARD … LEOPARD Syndrome: Causes, Symptoms & Treatment
Holt-Oram syndrome is a malformation syndrome associated primarily with heart defects and abnormalities of the thumbs that results from a mutation. In most cases, the causative mutation occurs sporadically and thus corresponds to a new mutation. Surgical correction of the cardiac defect is the focus of therapy. Holt-Oram syndrome? Congenital malformation syndromes with predominant involvement … Holt-Oram Syndrome: Causes, Symptoms & Treatment
CEDNIK syndrome is a congenital disease that is manifested by abnormalities of the skin as well as disorders of the nervous system. The patients with CEDNIK syndrome mainly suffer from keratoderma as well as hyperkeratosis. Thereby the cornification processes of the skin are impaired. On the nervous system, CEDNIK syndrome is particularly manifested by developmental … CEDNIK Syndrome: Causes, Symptoms & Treatment
Hypertelorism is an abnormally large distance between the eyes that does not necessarily have pathological value. When the phenomenon is present in the context of malformation syndromes, it has pathologic significance and is usually due to a genetic mutation. Treatment of hypertelorism is usually not indicated, but may improve the quality of life of the … Hypertelorism: Causes, Treatment & Help
Neu-Laxova syndrome is a malformation syndrome that has been associated with incest. Affected children have multiple malformations with a usually lethal course. Therapeutic options are almost nonexistent because of the severity and multiplicity of the malformations. What is Neu-Laxova syndrome? Malformation syndromes are a set of symptom complexes that appear from birth as multiple malformations. … Neu-Laxova Syndrome: Causes, Symptoms & Treatment
Catel-Manzke syndrome, or CATMANS, occurs relatively rarely and is sex-linked. The typical symptoms of the disease correspond to those of the so-called Pierre-Robin sequence. These include, for example, symptoms such as a cleft palate, glossotopsis, and microgenia. Another characteristic is that there are too many finger parts on the hands. In addition, the index finger … Catel-Manzke Syndrome: Causes, Symptoms & Treatment
Physicians know Lenz-Majewski syndrome as a type of hyperostotic short stature associated with cutix laxa and osteosclerosis. The syndrome is based on a mutation of gene PTDSS1 on gene locus 8q22.1. Causal therapy is not yet available for affected individuals. What is Lenz-Majewski syndrome? Lenz-Majewski syndrome is a specific and extremely rare form of short … Lenz-Majewski Syndrome: Causes, Symptoms & Treatment