1,527 articles
Burn-McKeown syndrome
Burn-McKeown syndrome (BMKS, ORPHA:1200, OMIM 608572), also called oculo-oto-facial dysplasia, is an ultra-rare autosomal recessive spliceosomopathy from biallelic TXNL4A variants, causing bilateral choanal atresia, eyelid coloboma, hearing loss, and cardiac defects with normal intelligence.
Burning feet syndrome
Burning feet syndrome, or Grierson-Gopalan syndrome, is burning, painful feet that worsen at night, usually from peripheral neuropathy, especially diabetes; also linked to vitamin deficiencies, including pantothenic acid and excess B6.
Butterfly-shaped pigment dystrophy
Butterfly-shaped pigment dystrophy (BPD), a rare autosomal dominant pattern dystrophy of the retinal pigment epithelium (OMIM 169150), features bilateral lipofuscin deposits in 3–5 butterfly-wing arms at the RPE, subnormal EOG, PRPH2 mutations such as Cys213Tyr, and good prognosis.
CACH syndrome
CACH syndrome, or vanishing white matter (VWM), a rare autosomal recessive leukodystrophy from EIF2B1-5 mutations causing eIF2B dysfunction, chronic decline, and fever- or trauma-triggered deterioration, onset 2-5 years classically.
CADASIL
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common hereditary cerebral small vessel disease, an autosomal dominant NOTCH3 disorder causing mid-adult lacunar stroke, migraine with aura, cognitive decline, and dementia, diagnosed by genetic testing or skin biopsy showing GOM.
CAMOS syndrome
CAMOS syndrome, also known as SCAR5, is a rare autosomal recessive disorder causing congenital ataxia, severe intellectual disability, optic atrophy, and skin vessel abnormalities, described in five children from a Lebanese family.
Canavan disease
Canavan disease, also called spongy degeneration of the brain or aspartoacylase deficiency, is an autosomal recessive leukodystrophy from ASPA mutations causing NAA buildup, macrocephaly, hypotonia, seizures, and shortened lifespan; AAV9 gene therapy trials are recruiting.
Cancer-associated retinopathy
Cancer-associated retinopathy (CAR) is a rare paraneoplastic disorder in which antibodies against retinal proteins cause sudden, usually bilateral vision loss, often before the underlying cancer is found.
Candida meningitis
Candida meningitis, a rare fungal meningitis usually caused by Candida albicans, arises by hematogenous spread or direct inoculation after neurosurgery or device placement; treated with liposomal amphotericin B plus flucytosine, then fluconazole, with about 35% mortality.
CANOMAD syndrome
CANOMAD syndrome, also called CANDA, is a rare chronic immune-mediated neuropathy with sensory ataxia, ophthalmoplegia, IgM paraprotein, cold agglutinins, and anti-disialosyl ganglioside antibodies, treated with IVIg or rituximab.
CARASAL
CARASAL, cathepsin A-related arteriopathy with strokes and leukoencephalopathy, is a rare autosomal dominant genetic disease causing adult-onset strokes and severe white matter damage, caused by CTSA gene variants and first characterized in 2016.
Carcinoma in situ of the cornea
Carcinoma in situ of the cornea (ICD-11 2E6A.1) is a preinvasive ocular surface squamous neoplasia stage: full-thickness corneal epithelial atypia with intact basement membrane, caused mainly by UV-B, treated by excision or topical chemotherapy.
Caribbean parkinsonism
Caribbean parkinsonism, or parkinsonism with dementia of Guadeloupe, is an endemic levodopa-unresponsive atypical parkinsonism with dementia in the French West Indies, linked to Annonaceae toxins such as annonacin and resembling a PSP-like tauopathy.
Catalepsy (κατάληψις)
Catalepsy (κατάληψις) is a neuropsychiatric sign of prolonged involuntary posture-holding against gravity, a cardinal motor feature of catatonia in DSM-5, assessed by physical examination and distinct from cataplexy.
Cataplexy
Cataplexy: sudden, brief, emotion-triggered bilateral loss of muscle tone with preserved consciousness, the hallmark of narcolepsy type 1; diagnosed clinically, treated with sodium oxybate or pitolisant.
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS (OMIM 616007, ORPHA:436174) is an ultra-rare autosomal recessive mitochondrial disease caused by IARS2 mutations, combining cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and spondyloepimetaphyseal dysplasia with normal cognition.
Cataract-intellectual disability-hypogonadism syndrome
Cataract-intellectual disability-hypogonadism syndrome, also called Martsolf syndrome, is a rare autosomal recessive genetic disorder featuring congenital cataract, mild-to-moderate intellectual disability, hypogonadism, and characteristic facial features.
Cataract-microcornea syndrome
Cataract-microcornea syndrome (CCMC, ORPHA:1377) is a rare genetic disorder combining congenital cataract with microcornea under 10 mm, without systemic anomalies; autosomal dominant or recessive, linked to crystallin, GJA8, MAF, ABCA3, and SOX2 genes.
Cavernous sinus syndromes
Cavernous sinus syndromes: cranial nerve III–VI and sympathetic involvement from lesions of the cavernous sinus; causes include tumors (30%), vascular disease, thrombosis, and Tolosa-Hunt syndrome.
CDKL5-deficiency disorder
CDKL5-deficiency disorder (CDD), a rare X-linked developmental and epileptic encephalopathy from CDKL5 gene variants at Xp22.13, causes infantile-onset treatment-resistant seizures, severe developmental delay, and cortical visual impairment; ganaxolone (Ztalmy) is the first approved treatment.
CEDNIK syndrome
CEDNIK syndrome (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma), also proposed as SNAP29-related disorder, is a rare autosomal recessive neurocutaneous disease caused by biallelic SNAP29 loss-of-function variants, with developmental delay, hypotonia, and variable skin and brain findings.
Central cloudy dystrophy of François
Central cloudy dystrophy of François (CCDF, MIM 217600) is a rare stromal corneal dystrophy with central polygonal gray opacities, first described in 1955, nonprogressive, asymptomatic, possibly identical to posterior crocodile shagreen.
Central pontine myelinolysis
Central pontine myelinolysis (CPM), part of osmotic demyelination syndrome, is noninflammatory demyelination of the central pons after rapid correction of hyponatremia; biphasic symptoms appear 1-14 days post-correction, prevented by limiting sodium rise to 8-12 mEq/L per 24 hours.
Central retinal artery occlusion
Central retinal artery occlusion (CRAO), also called eye stroke, is sudden blockage of the central retinal artery causing painless monocular vision loss; usually embolic from carotid or heart, treated as acute stroke, with no proven vision-restoring therapy.
Central scotoma
Central scotoma: an area of depressed vision at the fixation point interfering with central vision (HPO HP:0000603; ICD-11 9D42.4). Caused by macular disease or optic neuropathy; managed with eccentric viewing and magnification.
Central serous chorioretinopathy
Central serous chorioretinopathy (CSC), also called central serous retinopathy, is a macular eye disease with serous retinal detachment from a thickened, leaky choroid; it affects mainly middle-aged men and is treated with photodynamic therapy.
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
CANVAS (MIM 614575), cerebellar ataxia with neuropathy and bilateral vestibular areflexia, an adult-onset autosomal recessive disorder caused by biallelic AAGGG repeat expansions in RFC1, distinguished from MSA by vestibulopathy and chronic dry cough.
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
CAPOS syndrome (cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, OMIM 601338) is a rare ATP1A3 p.Glu818Lys disorder with fever-triggered ataxic episodes and progressive vision and hearing loss.
Cerebellar ataxia-hypogonadism syndrome
Cerebellar ataxia-hypogonadism syndrome, also called Gordon Holmes syndrome (ORPHA:1173, OMIM 212840), is a very rare autosomal recessive neurodegenerative disorder combining progressive cerebellar ataxia with hypogonadotropic hypogonadism, caused by RNF216, PNPLA6, or STUB1 mutations.
Cerebellar ataxia, Cayman type
Cerebellar ataxia, Cayman type (Cayman ataxia) is a rare autosomal recessive disorder first described on Grand Cayman Island, caused by mutations in the ATCAY gene.