wiskott-aldrich syndrome

Wiskott-Aldrich Syndrome

Wiskott-Aldrich syndrome is an immunodeficiency hereditary disease characterized by eczema, hemorrhagic syndrome, a high probability of developing tumors, infectious and autoimmune diseases. The key symptoms are prolonged bleeding from injuries, frequent nosebleeds and hematomas, recurrent bacterial, fungal and viral infections, skin rash, provoking itching and burning sensation. The diagnosis is established on the basis of…

williams syndrome

Williams syndrome

Williams syndrome is a genetic disease characterized by various malformations of the face, cardiovascular system, musculoskeletal system and central nervous system. Symptoms of this condition are a characteristic appearance (“elf face”), muscular hypotension, rather pronounced mental retardation, increased frequency of heart defects and umbilical hernias. Diagnosis of Williams syndrome is carried out on the basis…

wiedemann-rautenstrauch syndrome

Wiedemann-Rautenstrauch Syndrome

Wiedemann-Rautenstrauch syndrome is a congenital disease characterized by premature aging and manifests itself from the neonatal period. The development of the disease is associated with genetic mutations POLR3A, LMNA, ERCC8. The disease manifests itself in the newborn period, manifests itself in senile appearance, multiple congenital malformations, lag in growth and psychomotor development. For the diagnosis…

van der woude syndrome

Van der Woude Syndrome

Van der Woude syndrome is a genetically determined complex of orofacial defects, the most specific of which are facial clefts, hypodontia, paramedian sinuses of the lower lip. There are also other dysplastic stigmas: short lingual frenulum, arched palatine vault, rarely – CHD, abnormalities of limb development. The examination includes genodiagnostics, Rg/CT of the facial skull,…

waardenburg syndrome

Waardenburg Syndrome

Waardenburg syndrome is a genetically heterogeneous hereditary disease characterized by a complex of anomalies and malformations caused by a violation of the formation of neural crest structures in the embryonic period. Symptoms of this condition are displacement of the lateral angle of both eyes, a wide bridge of the nose (“Greek profile”), pigmented abnormalities of…

brugada syndrome

Brugada Syndrome

Brugada syndrome is a genetically determined cardiological condition characterized by various disorders of the heart, which lead to a sharp increase in the risk of sudden cardiac death. Symptoms of this condition are attacks of paroxysmal tachycardia, fainting, atrial fibrillation and life-threatening ventricular fibrillation, most often occurring during sleep. Diagnosis of Brugada syndrome is made…

bloom syndrome

Bloom Syndrome

Bloom syndrome (BSyn) is a rare hereditary disease with an autosomal recessive transmission mechanism, which is manifested by growth retardation, telangiectatic erythema, reduced immune reactivity. Patients, as a rule, develop lung lesions, reproductive function disorders, and a predisposition to malignant neoplasms is observed. The syndrome is diagnosed pre- and postnatally. The most informative is molecular…

incontinentia pigmenti

Incontinentia Pigmenti

Incontinentia pigmenti is a hereditary form of skin pigmentation disorder, which is often combined with malformations of teeth, hair, nails and eyes. The symptoms of the disease are characterized by pronounced stages – first, an erythematous rash appears on the skin in the form of spots and lines, then hyperkeratosis develops in its place, followed…

beals syndrome

Beals Syndrome

Beals syndrome is a rare monogenic disease, clinically similar to Marfan syndrome, which occurs due to a violation of the structure of connective tissue. It has an autosomal dominant type of inheritance. Pathology is manifested by articular contractures, multiple anomalies of the skeleton structure, specific deformation of the auricle by the type of “crumpled” ear.…