Genodermatoses

Vitiligo ( ) is a chronic autoimmune disorder that causes patches of skin to lose pigment or color. The cause of vitiligo is unknown, but it may be related to immune system changes, genetic factors, stress, or sun exposure, and susceptibility to it may be affected by regional environmental risk factors, especially early in life. Treatment options include topical medications, light therapy, surgery and cosmetics. The condition causes patches of light-peach colored skin that vary in size and can appear anywhere on the body; in particular, nonsegmental vitiligo, the common form, tends to progress

chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX

Progeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome; HGPS) is a type of progeroid syndrome. A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complication

Heterochromia is a variation in coloration most often used to describe color differences of the iris, but can also be applied to color variation of hair or skin. Heterochromia is determined by the production, delivery, and concentration of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury. It occurs in humans and certain breeds of domesticated animals.

group of genetic connective tissue disorders

rare genetic disorder

genetic condition in humans

human genetic disorder

rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

extremely rare connective tissue disease

Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes , since dry, scaly skin is the defining feature of all forms of ichthyosis.

autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair

human disease

human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels

congenital skin disease

congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems with potential for subsequent malignant change.

congenital disorder of digestive system

Lethal autosomal recessive disorder

Congenital disorder of the skull and face

skin condition characterized by small bumps

neurological and skin disorder associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. It weakens the immune system, causing a predisposition to infection. It prevents the repair of broken DNA, increasing the risk of cancer.

rare genetic disorder with short strature and predisposition to cancer

chromosome abnormality with a distinct craniofacial phenotype and intellectual disability

physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra

rare and fatal autosomal recessive neurodegenerative disorder

growth disorder

an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase

rare disease

Human disease

Human disease

inherited skin disorder

genetic disorder affecting the cerebellum

one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy

rare disease

chromosomal variation of the aneuploidic type characterized by the presence of an extra X and Y chromosome

human disease

human disease

autosomal recessive form of ichthyosis apparent at birth

rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)

congenital disorder of digestive system

congenital disorder of digestive system

no proof

syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays

rare neoformation of the cerebellum due to a mutation in the PTEN-Gen

human disease

Human disease

autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes

lysosomal storage disease

paraneoplastic syndrome

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

skin disorder

metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair

autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)

rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes

inherited disease affecting the skin and other organs

Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis; the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people. Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue. Specific lesion site and clinical manifestations on the body vary depending on the type. In spite of the variety and complexity of genodermatosis, there are still some common methods that can help p

syndrome characterized by multiple polyps of the digestive tract