Syndromes

Human disease

medical condition

human disease

Human disease

group of mast cell disorders in which there is aberrant release of mast cell mediators

very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism

autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36

Human disease

coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus

neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures

complication of otitis media and mastoiditis involving the apex of the petrous temporal bone

compression neuropathy and painful foot condition in which the tibial nerve is compressed as it travels through the tarsal tunnel

autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities

Human disease

collection of health disorders among survivors of critical illness

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.

medical condition

allergic reaction in the mouth following eating food

medical condition

Medical condition

medical condition

heart attack symptoms in women

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin

non-traumatic subluxation of the atlanto-axial joint caused by inflammation of the adjacent tissues. This is a rare disease that usually affects children.

autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene

Human disease

Human disease

medical condition

dysfunction of the reward system observed in some individuals taking dopaminergic medications for an extended length of timeDDS

syndrome that occurs when tiny flakes of dandruff-like material build up in the body and are found in the heart, kidneys, liver, lungs, and eye

venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis

rare form of autosomal recessive congenital muscular dystrophy

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBID

sleep disorder

human disease

autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism

alleged condition of hair suddenly turning white

autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs

Syndrome of vascular dysregulation

adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure

medical condition causing back pain

medical condition

compression neuropathy

Human disease

medical condition

medical condition

Human disease

medical condition

proposed disorder of vision

rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet

eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop gluacoma

chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional methods

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment

intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption

medical condition

medical condition

congenital defect