cornelia de lange syndrome

Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a genetically mediated multisystem disease involving multiple developmental abnormalities and oligophrenia. The phenotypic signs of the syndrome are represented by microbrachycephaly, an understated hairline, thin fused eyebrows, a wide sunken bridge of the nose, microgenia, etc. Characterized by stunting, congenital malformations are possible (CHD, genitourinary abnormalities, pylorostenosis, diaphragmatic hernia). The…

cockayne syndrome

Cockayne Syndrome

Cockayne syndrome is a genetic disease of a neurodegenerative nature, the causes of which lie in the violation of the processes of DNA repair (recovery after damage). The symptoms of this pathology are severe mental retardation, lack of physical development, visual and hearing impairments, photosensitization of the skin to sunlight. Diagnosis is made on the…

kartagener syndrome

Kartagener Syndrome

Kartagener syndrome is a genetic pathology of the ciliary apparatus, leading to the development of chronic rhinosinusitis, bronchitis, bronchiectasis, combined with the reverse location of the organocomplex “heart–lungs”. The disease debuts in infancy and is characterized by frequent purulent-inflammatory processes of the upper and lower respiratory tract. It is diagnosed using radiation methods of examination…

carpenter syndrome

Carpenter Syndrome

Carpenter syndrome (acrocephalopolysyndactyly type 2) is an extremely rare hereditary disease caused by a mutation of the RAB23 gene. Pathology is transmitted by autosomal recessive type. The disease has a characteristic triad of symptoms: early overgrowth of cranial sutures (craniosynostosis) with congenital dysmorphia of the facial skeleton, multiple malformations of the limbs, obesity. Diagnosis includes…

kallman syndrome

Kallman Syndrome

Kallman syndrome is a hereditary disease that manifests itself as anosmia and hypogonadotropic hypogonadism. The pathology is caused by several types of mutations in the X chromosome or autosomes. The syndrome is manifested by underdevelopment of primary and secondary sexual characteristics, impaired ability to distinguish odors, delayed psychomotor development. Hormonal and genetic studies, ultrasound of…

kabuki syndrome

Kabuki Syndrome

Kabuki syndrome is a rare monogenic disease characterized by peculiar phenotypic features and intellectual deficiency. Patients have facial features (almond-shaped incision of the eyes, strabismus, arched eyebrows, wide bridge of the nose, low-set protruding ears, etc.), skeletal anomalies, defects of internal organs, oligophrenia. Diagnosis is based on clinical criteria confirmed by genetic analyses. Treatment is…

joubert syndrome

Joubert Syndrome

Joubert syndrome is a rare genetically heterogeneous hereditary disease characterized by a violation of the formation of the cerebellum and brain stem structures with the development of appropriate neurological symptoms. The symptoms of this pathology show significant variability in their severity, respiratory disorders, oculomotor disorders and muscle weakness are most often observed, hearing disorders and…

digeorge syndrome

DiGeorge Syndrome

DiGeorge syndrome is a genetic disease belonging to the group of primary immunodeficiency and, along with a weakening of immunity, characterized by numerous malformations. Symptoms of this condition are frequent bacterial infections with a tendency to severe course, congenital heart defects, facial malformations and other disorders. Diagnosis is based on the study of the heart,…

Job Syndrome

Job Syndrome

Job syndrome is a multisystem hereditary disease based on primary immunodeficiency. Occurs due to mutations in STAT3, TYK2, DOCK8 genes. The classic triad of symptoms includes eczematous dermatitis, recurrent skin infections, and infectious lung lesions. There are also deformations of facial features, bone anomalies, violations of the formation of teeth. To diagnose the Gob syndrome,…