pediatrician - Page 2

Dejerine-Sottas Disease: Causes, Symptoms & Treatment

Dejerine-Sottas disease is an inherited disorder that affects the peripheral nerves. Dejerine-Sottas disease belongs to the group of inherited sensory and motor neuropathies. Doctors often refer to the disorder as HMSN type 3. What is Dejerine-Sottas disease? Dejerine-Sottas disease is also known by the synonyms hypertrophic neuropathy of childhood and Charcot-Marie-Tooth disease type 3. Dejerine-Sottas … Dejerine-Sottas Disease: Causes, Symptoms & Treatment

Brachydactyly: Causes, Symptoms & Treatment

The medical term brachydactyly describes shortened fingers and toes. This condition, usually inherited in an autosomal dominant manner, belongs to the group of malformed limbs. What is brachydactyly? This genetic defect occurs either in isolation or syndromically. The course may have a primary or a secondary cause. It is additionally characterized by bony dysostosis. Only … Brachydactyly: Causes, Symptoms & Treatment

Brachycephalus: Causes, Symptoms & Treatment

Brachycephalus represents a deformity of the skull caused by premature ossification of the cranial suture. The head appears round due to its shortness and width. Because the brain‘s growth is restricted by this deformation of the skull, brachycephalus must be treated surgically at an early stage. What is brachycephalus? The term brachycephalus comes from the … Brachycephalus: Causes, Symptoms & Treatment

Partington Syndrome: Causes, Symptoms & Treatment

Partington syndrome is a congenital disorder that manifests in specific leading symptoms. For example, Partington syndrome is associated with mental retardation, dystonic movements of the hands, and dysarthria. Intellectual abilities are only mildly to moderately impaired in Partington syndrome. Partington syndrome represents an x-linked inherited disorder. What is Partington syndrome? Partington syndrome is enormously rare. … Partington Syndrome: Causes, Symptoms & Treatment

Short Stature: Causes, Symptoms & Treatment

Short stature, short stature, or short stature are commonly used colloquial terms for microsomia. It does not initially represent a disease in its own right, but can appear as a symptom of many different diseases. However, it often results in other complaints in the life of the affected person. What is short stature? About 100,000 … Short Stature: Causes, Symptoms & Treatment

Endocrinologist: Diagnosis, Treatment & Choice of Doctor

As a specialist, an endocrinologist deals with the hormone system of the human body, the so-called endocrinium. Significant attention is paid to the so-called endocrine glands, which release hormones into the blood. A large number of diseases are hormonally influenced or caused and therefore require the consultation of an endocrinologist. What is an endocrinologist? As … Endocrinologist: Diagnosis, Treatment & Choice of Doctor

Developmental Language Disorder: Causes, Symptoms & Treatment

Language development disorders are not uncommon in young children. Here, the cause often lies in the over- or under-challenge of the not yet fully mature brain. Here it is important to support the child gently, never overreacting. The child should not be made to feel stupid or untalented. Later speech inhibitions, language disorders and even … Developmental Language Disorder: Causes, Symptoms & Treatment

Chassaignac Palsy: Causes, Symptoms & Treatment

Chassaignac palsy occurs primarily in young children up to four years of age. In this case, the so-called head of the radius in the elbow joint is dislocated. This is only possible in toddlers, because from the age of four the radial head reaches its final size. Basically, a distinction is made between Chassaignac’s palsy … Chassaignac Palsy: Causes, Symptoms & Treatment

Neurofibromatosis Type 1: Causes, Symptoms & Treatment

Neurofibromatosis type 1 is a genetic disorder for which malformations of the central nervous system and skin are characteristic. With approximately one in 3000 newborns, neurofibromatosis type 1 is one of the most common genetic disorders. What is neurofibromatosis type 1? Neurofibromatosis type 1 (also known as Recklinghausen’s disease) is a genetic phakomatosis with malformations … Neurofibromatosis Type 1: Causes, Symptoms & Treatment

Karsch-Neugebauer Syndrome: Causes, Symptoms & Treatment

Symptomatic of Karsch-Neugebauer syndrome are primarily deformities of the hands and feet. Further, uncontrollable eye tremor and severe strabismus are typical. All therapeutic options are primarily based on the symptoms and treatment begins immediately after birth. What is Karsch-Neugebauer syndrome? Karsch-Neugebauer syndrome is a very rare inherited disorder. It was first described by an ophthalmologist … Karsch-Neugebauer Syndrome: Causes, Symptoms & Treatment

Arts Syndrome: Causes, Symptoms & Treatment

Arts syndrome is a disease that, according to previous findings, is enormously rare. Only a few families are known to have Arts syndrome. Arts syndrome exists from birth and has genetic causes. The main symptoms of the disease consist of impaired hearing, ataxia, and optic atrophy. What is Arts syndrome? Arts syndrome is known by … Arts Syndrome: Causes, Symptoms & Treatment

Baller-Gerold 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