TaoMedAI/RareMedData huggingface dataset:
Carnitine palmitoyl transferase II deficiency, severe infantile form (ORPHA:228305)
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Epidemiology
It has been identified in approximately 30 families.
Clinical description
Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterized by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias.
Etiology
Missense mutations in the CPT2 gene result in the infantile form of CPT II deficiency. Contrary to the adult myopathic form (see this term), no S113L mutations have ever been detected in the infantile form.
Diagnostic methods
The diagnosis is made by an initial tandem mass spectrometric analysis of serum/plasma acylcarnitines followed by mutation analysis and measurements of CPT2 enzyme activity in fresh circulating lymphocytes, muscle or skin fibroblasts.
Differential diagnosis
The differential diagnosis should include carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms).
Antenatal diagnosis
Prenatal diagnosis is available using both molecular and enzymatic analysis.
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Treatment is based on prevention of the fasting intolerance by providing carbohydrate calories during periods of febrile or gastrointestinal illness. When well, a low-fat and high-carbohydrate diet is initiated and for the most severe forms of the disease overnight feeding with a slow release carbohydrate such as corn starch can be implemented. Anaplerotic therapy with triheptanoin has also been suggested as a therapy. Plasma carnitine levels may be low in the disease and L-carnitine administration is also used in the treatment but this approach has not been validated in a controlled study.
Prognosis
The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. This is particularly true for undiagnosed cases. Early diagnosis through newborn screening has identified cases pre-symptomatically and outcomes appear to be improving as a result.

                            Last update: 
                            May 2010


                            - Expert reviewer(s): 
                            Pr Michael BENNETT  - Dr Charles STANLEY
Carnitine palmitoyltransferase II deficiency (ORPHA:157)
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
Epidemiology
More than 300 CPT II cases have been described with the myopathic form being the most common (myopathic form: 86%, severe infantile form: 8%, neonatal form: 6% of cases).
Clinical description
The myopathic form is the least severe and is characterized by recurrent attacks of rhabdomyolysis, muscle pain and weakness triggered by prolonged physical exercise, fasting, viral illness or extremes in temperature. The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy. The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features (e.g. cystic dysplastic kidneys).
Etiology
More than 60 mutations in the CPT2 gene, resulting in general in amino acid substitutions or small deletions, cause the CPT II deficiency.
Diagnostic methods
The diagnosis is made by an initial tandem mass spectrometry of serum/plasma acylcarnitines followed by mutation analysis and measurements of CPT2 enzyme activity in fresh circulating lymphocytes, muscle or fibroblasts.
Differential diagnosis
The differential diagnosis for the myopathic form should include McArdle disease, Duchenne muscular dystrophy, and cytochrome c oxidase deficiency (see these terms) among others, and carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms) for the infantile and neonatal forms
Antenatal diagnosis
Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Treatment is based on avoidance of prolonged fasting (>12 hr) and a low-fat and high-carbohydrate diet.
Prognosis
The myopathic form of CPT II has a good prognosis. The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. The neonatal form is almost always lethal during the first months of life.

                            Last update: 
                            April 2010


                            - Expert reviewer(s): 
                            Pr Michael BENNETT  - Dr Charles STANLEY
Carnosinase deficiency (ORPHA:1361)
A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.
Caroli syndrome (ORPHA:480520)
A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.
Carpotarsal osteochondromatosis (ORPHA:2767)
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.
Cartilage-hair hypoplasia (ORPHA:175)
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
Epidemiology
Prevalence is unknown.
Clinical description
The disease is associated with fine, slow growing hair, and sometimes with immune deficiencies. Other symptoms include short hands and possibly short, deformed limbs (varus). X-ray reveals metaphyseal lesions, especially in the knees, and large, round epiphyses during childhood. Short stature is common and has very early onset but immune deficiency is not always present. The disease course is variable.
Etiology
Mutations in the RMRP (RNA component of mitochondrial RNA-processing endoribonuclease) gene, which maps to the 9p21-p12 locus, are responsible for the disease.
Diagnostic methods
The diagnosis is confirmed by direct sequencing of the RMRP gene.
Differential diagnosis
The differential diagnosis should include other forms of short-limb dwarfism.
Antenatal diagnosis
A recurrence risk of 25% justifies prenatal diagnosis, which is possible through molecular analysis if the causative mutation has already been identified in a proband. Micromelia may be detected early in pregnancy during ultrasound follow up, but is not specific.
Genetic counseling
Cartilage-hair hypoplasia is inherited in an autosomal recessive manner.
Management and treatment
Immunodeficiency, when severe, may require bone marrow transplantation but this does not have any effect on the growth deficiency.
Prognosis
The prognosis depends on the presence and severity of the immune deficiency and the possible association with Hirschsprung disease (see this term).

                            Last update: 
                            November 2008


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Carvajal syndrome (ORPHA:65282)
A rare genetic ectodermal dysplasia syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.
Castleman disease (ORPHA:160)
A rare lymphoid hemopathy characterized by involvement of lymph nodes in any part of the body, most frequently the mediastinum, abdomen, neck, or spleen, and occurring as unicentric, idiopathic multicentric, or KSHV/HHV8-associated multicentric Castleman disease. Depending on the type, patients are most commonly asymptomatic or typically present with systemic symptoms.
Cat-scratch disease (ORPHA:50839)
Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria Bartonella henselae, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).
Cataract-aberrant oral frenula-growth delay syndrome (ORPHA:1373)
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Cataract-ataxia-deafness syndrome (ORPHA:1368)
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.
Cataract-congenital heart disease-neural tube defect syndrome (ORPHA:314993)
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
Cataract-deafness-hypogonadism syndrome (ORPHA:1383)
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.
Cataract-hypertrichosis-intellectual disability syndrome (ORPHA:1375)
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Cataract-intellectual disability-anal atresia-urinary defects syndrome (ORPHA:1381)
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.
Epidemiology
It has been described in three siblings born to nonconsanguineous parents.
Genetic counseling
It is likely to be transmitted as an autosomal recessive trait.
Management and treatment
The patients underwent surgery for imperforate anus and cataract.

                            Last update: 
                            March 2007
Cataract-intellectual disability-hypogonadism syndrome (ORPHA:1387)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Epidemiology
Less than 20 cases have been described in the literature so far.
Clinical description
Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears).
Etiology
Mutations in the RAB3GAP2 gene have been identified in some patients.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            May 2009
Cataract-microcornea syndrome (ORPHA:1377)
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.
Cataract-nephropathy-encephalopathy syndrome (ORPHA:1380)
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.
Catastrophic antiphospholipid syndrome (ORPHA:464343)
A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy (ORPHA:575553)
A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.
Caudal appendage-deafness syndrome (ORPHA:1123)
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
Caudal duplication (ORPHA:1756)
Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
Caudal regression-sirenomelia spectrum (ORPHA:444941)
A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.
Cavitary myiasis (ORPHA:165958)
Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.
CCDC115-CDG (ORPHA:468684)
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome (ORPHA:566067)
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.
CEDNIK syndrome (ORPHA:66631)
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.
Celiac artery compression syndrome (ORPHA:293208)
A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.
CELSR1-related late-onset primary lymphedema (ORPHA:569816)
A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.
Cenani-Lenz syndrome (ORPHA:3258)
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Epidemiology
Fewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families.
Clinical description
Classical CLS is characterized by the almost symmetrical presence of a total fusion of fingers and synostosis of the hand bones, giving the hands a mitten-like appearance. A variant of the syndrome, with oligodactyly and partial syndactyly, has been reported. The following features characterize the syndrome: carpal, metacarpal and digital synostoses, disorganization of the carpal bones, numeric reduction of the digital rays and toe syndactyly. Other features are radioulnar synostosis with shortening of the radius and ulna, brachymesomelia, radius head dislocation and metatarsal synostoses. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemivertebral anomalies) have occasionally been reported. A few publications associate CLS with other, more frequent, forms of syndactyly. Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short prominent philtrum and malar hypoplasia) has been described in isolated cases.
Etiology
The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. A heterozygous duplication of 1.7 Mb covering the GREM1 and FMN1 genes has also been reported in a CLS-like form of the syndrome.
Diagnostic methods
Diagnosis is essentially clinical.
Differential diagnosis
CLS can be distinguished clinically from other limb malformations.
Antenatal diagnosis
Diagnosis can be suspected antenatally by ultrasonography.
Genetic counseling
As an autosomal recessive syndrome, recurrence risk for CLS is 25% for a subsequent pregnancy.
Management and treatment
Surgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory.
Prognosis
Functional prognosis depends on the specific limb anomalies of the patient.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Pr Didier LACOMBE
Central areolar choroidal dystrophy (ORPHA:75377)
A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.