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
Saethre-Chotzen syndrome is a disease associated with craniosynostosis. Saethre-Chotzen syndrome is congenital, as the causes are genetic. The disease is referred to by the abbreviation SCS. The main symptoms of Saethre-Chotzen syndrome are synostosis of the cranial suture on one or both sides, ptosis, an asymmetrical face, unusually small ears, and strabismus. What is Saethre-Chotzen … Saethre-Chotzen Syndrome: Causes, Symptoms & Treatment
Desmal ossification involves the conversion of embryonic connective tissue into bone. In comparison to chondral ossification, direct bone formation takes place here. In particular, the skull, facial skull, and clavicle are formed via desmal ossification. What is desmal ossification? During desmal ossification, embryonic connective tissue is transformed into bone. Figure shows embryo with recognizable spine. … Desmal Ossification: Function, Tasks, Role & Diseases
Rothmund-Thomson syndrome is the name given to a genetic skin disorder. Its inheritance is autosomal recessive. What is Rothmund-Thomson syndrome? Rothmund-Thomson syndrome (RTS) is one of the genetic skin diseases. In this case, there is marked poikiloderma, especially in the facial region, which is associated with orthopedic and ophthalmologic complaints. In addition, there is an … Rothmund-Thomson Syndrome: Causes, Symptoms & Treatment
RAPADILINO syndrome is a malformation syndrome with the leading symptoms of short stature and skeletal malformation. The syndrome is based on a hereditary mutation. Therapy of the incurable disease is symptomatic. What is RAPADILINO syndrome? Some congenital malformation syndromes are predominantly associated with short stature. One of these syndromes is RAOADILINO syndrome, whose name is … RAPADILINO Syndrome: Causes, Symptoms & Treatment
