25,729 articles
Isolated congenital cholesteatoma of the middle ear
Isolated congenital cholesteatoma of the middle ear (ORPHA:686556, CCME, CMEC) is a rare epidermal cyst behind an intact eardrum, arising from embryonic epithelial rests, causing hearing loss or facial palsy, treated surgically.
Isolated congenital hepatic fibrosis
Isolated congenital hepatic fibrosis (isolated CHF, ORPHA:485426) is a rare liver disease from ductal plate malformation causing portal fibrosis, portal hypertension with preserved liver function, unknown genes and inheritance, ICD-10 Q44.6.
Isolated congenital hypogonadotropic hypogonadism
Isolated congenital hypogonadotropic hypogonadism (IHH/CHH), including Kallmann syndrome when smell is impaired, is a rare genetic GnRH deficiency causing absent puberty and infertility, prevalence about 1/5,000-1/10,000.
Isolated congenital long QT syndrome
Isolated congenital long QT syndrome, or Romano-Ward syndrome, is an inherited cardiac channelopathy causing QT prolongation, torsade de pointes, syncope, and sudden death without deafness; main genes KCNQ1, KCNH2, SCN5A.
Isolated congenital onychodysplasia
Isolated congenital onychodysplasia, also called Iso-Kikuchi syndrome or COIF, is a rare congenital nail dysplasia mainly of the index fingers, often with Y-shaped bifurcation of the distal phalanx, sporadic or autosomal dominant, benign prognosis.
Isolated corpus callosum agenesis
Isolated corpus callosum agenesis (isolated ACC, ORPHA:200) is a rare non-syndromic congenital malformation with partial or complete absence of the corpus callosum; often asymptomatic, it can cause cognitive, motor, and speech deficits, with supportive management.
Isolated Dandy-Walker malformation
Isolated Dandy-Walker malformation (ORPHA:217) is a rare non-syndromic posterior fossa brain malformation with hydrocephalus, absent or hypoplastic cerebellar vermis, and a fourth-ventricle cyst; prevalence 1-9/100,000, multigenic inheritance.
Isolated diastolic hypertension
Isolated diastolic hypertension (IDH), also called isolated high diastolic blood pressure, is elevated diastolic pressure (≥80 mmHg ACC/AHA or ≥90 mmHg ESC) with normal systolic pressure, affecting mainly adults under 55, linked to obesity and smoking, and of debated treatment value.
Isolated digestive duplication cyst of the tongue
Isolated digestive duplication cyst of the tongue (ORPHA:141071), also called enteric or foregut duplication cyst of the tongue, is an extremely rare congenital cyst of the anterior tongue lined by gastric, intestinal, or respiratory epithelium, treated by complete excision.
Isolated ectopia lentis
Isolated ectopia lentis (familial ectopia lentis, ORPHA:1885) is a rare inherited eye disorder with lens dislocation and no systemic features, caused by FBN1 (dominant) or ADAMTSL4 (recessive) variants.
Isolated encephalocele
Isolated encephalocele (ORPHA:199647) is a rare congenital defect in which brain and meninges herniate through a skull opening without other anomalies; occipital location predominates, recurrence risk 2-5%, treated surgically.
Isolated filum lipoma
Isolated filum lipoma (filum terminale lipoma, filar lipoma): benign fat within the filum terminale, separate from the conus. Found in 1.5-4% of spinal MRIs; usually asymptomatic, managed by observation unless tethered cord syndrome develops.
Isolated focal cortical dysplasia
Isolated focal cortical dysplasia (ORPHA:65683, epilepsy due to FCD) is a rare genetic cerebral malformation of neuronal migration causing drug-resistant epilepsy; ILAE types I and II, treated with resective surgery.
Isolated follicle stimulating hormone deficiency
Isolated follicle stimulating hormone deficiency (isolated FSH deficiency, ORPHA:52901, OMIM 229070) is a rare autosomal recessive congenital hypogonadotropic hypogonadism caused by FSHB gene mutations, causing amenorrhea and infertility in women and azoospermia with normal virilization in men, treatable with FSH replacement.
Isolated foveal hypoplasia
Isolated foveal hypoplasia (IFH, ORPHA:519398) is a rare bilateral macular disorder with an underdeveloped foveal pit, absent foveal avascular zone, nystagmus, and low vision, without albinism or aniridia; main genes PAX6, SLC38A8, AHR.
Isolated glycerol kinase deficiency
Isolated glycerol kinase deficiency (GKD, hyperglycerolemia, OMIM 307030) is a rare X-linked recessive GK-gene disorder causing hyperglycerolemia, glyceroluria, and pseudohypertriglyceridemia, from asymptomatic adults to childhood metabolic crises.
Isolated hemihyperplasia
Isolated hemihyperplasia, also called isolated hemihypertrophy and now isolated lateralized overgrowth (OMIM 235000), is a rare asymmetric overgrowth of one side or region of the body, with raised childhood risk of Wilms tumor and hepatoblastoma.
Isolated hyperphalangy
Isolated hyperphalangy (ORPHA:295002, ICD-10 Q74.8), also called isolated congenital supernumerary phalanges, is a rare non-syndromic congenital limb malformation with an extra phalanx in one or more digits, excluding the thumb, almost always bilateral.
Isolated lower lip fistula
Isolated lower lip fistula (isolated lower lip pits, ORPHA:141064) is a rare congenital malformation with typically bilateral paramedian fistulae of the lower lip lined by labial mucosa, usually asymptomatic but sometimes draining saliva; coded ICD-10 Q38.0, ICD-11 LA5Y, treated by excision.
Isolated lung perfusion
Isolated lung perfusion (ILuP, also written ILP) is a surgical technique delivering high-dose chemotherapy to lung tumors while the lung is isolated from systemic circulation.
Isolated lymphatic malformation
Isolated lymphatic malformation (common cystic lymphatic malformation, ORPHA:458833) is a rare benign congenital malformation of lymphatic vessels causing cystic lesions, mostly in the head and neck, classified as macrocystic, microcystic, or mixed and treated with sclerotherapy, surgery, sirolimus, or alpelisib.
Isolated mesenteric vein thrombosis
Isolated mesenteric vein thrombosis (ORPHA:583861; ICD-10 K55.0) is a rare intestinal disease: clotting of mesenteric veins without splenic or portal vein involvement, causing possible mesenteric ischemia, treated mainly with anticoagulation.
Isolated micronodular adrenocortical disease
Isolated micronodular adrenocortical disease (i-MAD), also called iMAD, is a rare autosomal dominant bilateral adrenal micronodular disease causing ACTH-independent Cushing syndrome in children and young adults, distinguished from PPNAD by absent pigmentation and internodular atrophy.
Isolated microspherophakia
Isolated microspherophakia is a rare eye disorder in which the crystalline lens is unusually small and spherical, typically in both eyes, causing high myopia, lens dislocation, and angle-closure glaucoma.
Isolated nail clubbing
Isolated nail clubbing (isolated congenital digital clubbing, ORPHA:217059, OMIM 119900) is a rare genodermatosis of thickened, clubbed fingers and toes without other abnormalities, caused by HPGD or SLCO2A1 mutations raising prostaglandin E2, inherited dominantly or recessively.
Isolated ocular Stickler syndrome
Isolated ocular Stickler syndrome (ORPHA:209867; OMIM 609508), also called autosomal dominant rhegmatogenous retinal detachment, is a rare non-syndromic vitreoretinopathy with abnormal vitreous, retinal tears, and adult onset, caused mainly by COL2A1 exon 2 variants.
Isolated optic nerve hypoplasia
Isolated optic nerve hypoplasia (ORPHA:637061) is a rare congenital underdevelopment of the optic nerve with subnormal axon numbers, small double-ring optic discs, variable vision, autosomal dominant or recessive inheritance, ICD-10 Q07.8.
Isolated optic neuritis
Isolated optic neuritis (ION) is a rare inflammatory optic neuropathy with single or recurrent optic neuritis episodes unassociated with other neurological or systemic disease, presenting with subacute unilateral vision loss, eye-movement pain, and dyschromatopsia.
Isolated Pierre Robin sequence
Isolated Pierre Robin sequence (nonsyndromic Robin sequence) is a congenital triad of micrognathia, glossoptosis, and airway obstruction, often with U-shaped cleft palate, usually from de novo SOX9 enhancer changes.
Isolated polycystic liver disease
Isolated polycystic liver disease (PCLD, ADPLD, OMIM 174050) is a rare autosomal dominant disorder of multiple liver cysts without kidney failure, caused partly by PRKCSH and SEC63 mutations, treated with somatostatin analogues or surgery.