The following Conditions are related to Short stature
Select a specific condition below to view its details.
- Bloom syndrome
Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli Read More
- Bloom-torre-mackacek syndrome
Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli Read More
- Chanarin dorfman disease
Chanarin-Dorfman syndrome can affect many systems. All patients have skin findings that are usually present at birth: redness, fine scaling, dark pigmentation and severe itching which leads to scratching and skin-picking (excoriation). The skin appearance is referred to “ichthyosiform nonbullous erythroderma”. Patients also have liver disease with lipid storage which can lead to liver failure. About 60% of patients also have muscle Read More
- Cutis laxa
Symptoms of cutis laxa usually depend upon the exact type of the disorder. The shared symptom is loose, wrinkled skin (elastolysis). Unlike other skin disorders, cutis laxa doesn’t cause easy bruising or scarring. People with cutis laxa also have internal problems, such as abdominal aortic aneurysm. A portion of the aorta enlarges or bulges in people with this condition. Another common symptom is emphysema, in which the lungs don Read More
- Cutis laxa-growth deficiency syndrome
De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities. Read More
- De barsy syndrome
De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities. Read More
- De barsy-moens-diercks syndrome
De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities. Read More
- De santis cacchione syndrome
De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensit Read More
- Dorfman chanarin syndrome
Chanarin-Dorfman syndrome can affect many systems. All patients have skin findings that are usually present at birth: redness, fine scaling, dark pigmentation and severe itching which leads to scratching and skin-picking (excoriation). The skin appearance is referred to “ichthyosiform nonbullous erythroderma”. Patients also have liver disease with lipid storage which can lead to liver failure. About 60% of patients also have muscle Read More
- Ectodermal dysplasias
Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. However, characteristic features include insufficient intestinal absorption (malabsorption) of fats and oth Read More
- Epidermal nevus syndrome
Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut Read More
- H. gottron's syndrome
Gottron syndrome (GS) is an extremely rare inherited disorder characterized by the appearance of premature aging (progeria), especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). GS is described as a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin (subcutaneous atrophy). Other findings may include abnormally small hands and feet with Read More
- Hallermann streiff syndrome (hss)
Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually Read More
- Hallermann-streiff-francois syndrome
Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually Read More
- Hay-wells syndrome
Hay-wells syndrome, also termed Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, is a rare autosomal inherited disorder that occurs due to the changes in the TP63 gene.There is no cure for the syndrome. Certain treatment plans are implemented to manage the symptoms and prevent complications in the affected individuals. It includes,Antibiotics – People with this syndrome will b Read More
- Ichthyosis, chanarin dorman syndrome
Chanarin-Dorfman syndrome can affect many systems. All patients have skin findings that are usually present at birth: redness, fine scaling, dark pigmentation and severe itching which leads to scratching and skin-picking (excoriation). The skin appearance is referred to “ichthyosiform nonbullous erythroderma”. Patients also have liver disease with lipid storage which can lead to liver failure. About 60% of patients also have muscle Read More
- Short stature and facial telangiectasis
Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some cli Read More