Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response: A very rare syndrome characterized by reduced muscle tone and nystagmus in infants and ataxia. The electrical signals in nerves that send messages from the ears to the brain were abnormal but usually there were no hearing problems.
Hypotonic sclerotic muscular dystrophy: A very rare inherited disorder involving abnormalities of various body systems. It is a variation of Ullrich's disease. The contractures that develop progress rapidly.
A very rare syndrome characterized mainly by decreased hair and mental retardation
Hypotrichosis simplex: Abnormally sparse hair caused by a genetic anomaly.
The genetic basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency has been identified by nucleotide sequence analysis of HPRT cDNAs cloned from a patient with gout. A single nucleotide change was identified in two independent clones: an A to G transition at nucleotide 602. Confirmation of a mutation at this site was provided by RNase mapping analysis
BIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
Ichthyosiform erythroderma, corneal involvement, deafness: A very rare recessively inherited disorder characterized by deafness, eye problems and red scaly skin
Ichthyosis hystrix, Curth Macklin type: A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body.
Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erthematous plaques with a characteristic, migratory, double-edged scale at the margins, and is the typical cutaneous manifestation of Netherton's syndrome
Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads
Ichthyosis - mental retardation, Devriendt type: A very rare syndrome characterized mainly by dry, rough, scaly skin and mental retardation
Ichthyosis mental retardation dwarfism renal impairment: A rare genetic condition characterized by dwarfism, mental retardation, kidney dysfunction and ichthyosis (skin disorder characterized by fish-like scales).
Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. The ichthyosiform dermatoses may be classified according to clinical manifestations, genetic presentation, and histologic findings. Inherited and acquired forms of ichthyosis have been described, and ocular alterations may occur in specific subtypes. Five distinct types of inherited ichthyosis exist, as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma, and X-linked ichthyosis.
Ichthyosis prematurity syndrome: A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin.
Ichthyosis tapered fingers midline groove up is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Ichthyosis tapered fingers midline groove up, or a subtype of Ichthyosis tapered fingers midline groove up, affects less than 200,000 people in the US population.
Sometimes called fish scale disease or fishskin disease, ichthyosis vulgaris is an inherited skin disorder that causes dead skin cells to accumulate in thick, dry scales on the skin's surface. These scales can be present at birth, but usually first appear in early childhood. Sometimes ichthyosis vulgaris disappears entirely for most of the adult years, only to return later. Though most cases are mild, some cases of ichthyosis vulgaris are severe. No cure has been found and treatments are directed at controlling the signs and symptoms.
Ichthyosis with hypotrichosis, autosomal recessive: A rare, recessively inherited disorder characterized by dry, scaly skin and sparse hair.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin (keratosis) in several parts of the body. Most frequently, the face, neck, and forearms are involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes and beard. Baldness (alopecia) usually occurs.
Ichthyosis mental retardation dwarfism renal impairment: A rare genetic condition characterized by dwarfism, mental retardation, kidney dysfunction and ichthyosis (skin disorder characterized by fish-like scales).
Eosinophilic pneumonia (EP) is a disease in which a certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. Several different kinds of eosinophilic pneumonia exist and can occur in any age group. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. EP is diagnosed by a combination of characteristic symptoms, findings on a physical examination by a health provider, and the results of blood tests and x-rays. Prognosis is excellent once most EP is recognized and treatment with corticosteroids is begun
Neutropenia: Reduced number of granulocytes in the blood.
Alveolar hypoventilation syndrome (medical condition): A rare disorder involving bleeding into the lungs which can eventually cause damage to the lungs.
Atypical mycobacteria are a group of bacteria that are widely distributed in nature. They can be found in water, soil, animals and man, usually without evidence of disease.
Basal ganglia calcification, idiopathic 1: Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable
Idiopathic basal ganglia calcification, childhood onset: A rare disorder involving the buildup of calcium deposits in various parts of the brain. It manifests as degeneration of the nervous system.
Idiopathic CD4 lymphopenia is a rare and heterogeneous syndrome defined by low levels of CD4 T cells in the absence of HIV infection, which predisposes patients to infections and malignancies.Idiopathic CD4 lymphopenia is a rare and heterogeneous syndrome defined by low levels of CD4 T cells in the absence of HIV infection, which predisposes patients to infections and malignancies.
Idiopathic pulmonary fibrosis is scarring or thickening of the lungs without a known cause.