TaoMedAI/RareMedData huggingface dataset:
Isolated generalized anhidrosis with normal sweat glands (ORPHA:468666)
A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.
Isolated glycerol kinase deficiency (ORPHA:408)
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).
Isolated hemihyperplasia (ORPHA:2128)
Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.
Isolated hereditary congenital facial paralysis (ORPHA:306527)
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.
Isolated humeral agenesis/hypoplasia (ORPHA:294973)
Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.
Isolated humero-radial synostosis (ORPHA:3265)
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
Isolated humero-radio-ulnar synostosis (ORPHA:3266)
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
Isolated humero-ulnar synostosis (ORPHA:94056)
A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.
Isolated hyperchlorhidrosis (ORPHA:542657)
A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.
Isolated hyperphalangy (ORPHA:295002)
Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.
Isolated hypoplasia of thumb (ORPHA:294988)
A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
Isolated iridoschisis (ORPHA:519392)
A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. The inferior part of the iris is most commonly involved.
Isolated Klippel-Feil syndrome (ORPHA:2345)
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Epidemiology
The prevalence has been estimated at 1 in 50,000.
Clinical description
The syndrome was first reported in 1912 by Maurice Klippel and André Feil and is often associated with the classic clinical triad of manifestations consisting of a low posterior hairline, short neck, and limited neck range of motion. However, subsequent studies have shown that only 34% to 74% of patients present with such findings. The phenotypic expression of Klippel-Feil syndrome is variable, occurring with or without extraskeletal manifestations or any additional spinal abnormalities.
Etiology
The syndrome is caused by failure of cervical segmentation in the early stages of pregnancy but the exact aetiology and mode of inheritance remain unknown.
Diagnostic methods
Lateral neutral and flexion-extension as well as anteroposterior plain cervical radiographs demonstrating congenitally fused vertebrae are diagnostic. Magnetic resonance imaging and computed tomography can assist in the diagnosis and be used to evaluate for associated abnormalities.
Differential diagnosis
Differential diagnosis should include a surgical history of spinal fusion, ankylosing spondylitis, juvenile rheumatoid arthritis, fibrodysplasia ossificans progressiva (see these terms), and active or "burned out'' osteomyelitis.
Management and treatment
Treatment is based on the management of commonly associated symptoms, which include neck pain, radiculopathy, and/or myelopathy. The mainstay of treatment for patients with predominantly neck pain is conservative, non-operative measures. Radiculopathy secondary to nerve root impingement is also managed initially with conservative interventions and in selected cases may include spinal injections. Myelopathy due to spinal cord compression is typically attributed to congenital cervical stenosis, but may be exacerbated secondary to spinal cord compression from a combination of vertebral osteophyte and/or soft tissue compression. Patients with extensive congenital cervical fusion and/or excessive motion at a non-fused motion segment are regarded as being at high-risk for spinal cord injury and should alter daily activities to limit such potential injury. Surgical intervention may be warranted for specific cases where excessive cervical or craniovertebral motion is deemed potentially unstable and is associated with an increased risk of spinal cord injury.
Prognosis
The prognosis is variable.

                            Last update: 
                            June 2007


                            - Expert reviewer(s): 
                            Dr Dino SAMARTZIS  - Pr Francis SHEN
Isolated lissencephaly type 1 without known genetic defects (ORPHA:1084)
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
Isolated megalopapilla (ORPHA:519402)
A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.
Isolated melanotic schwannoma (ORPHA:590539)
A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.
Isolated mesenteric vein thrombosis (ORPHA:583861)
A rare intestinal disease characterized by isolated thrombosis of the mesenteric veins without involvement of the splenic or portal veins, potentially causing mesenteric ischemia. It may be primary/idiopathic or due to one or more local or systemic predisposing conditions, and may be acute/subacute or chronic, the latter being used for patients with symptoms lasting longer than 4 weeks but without bowel infarction, or patients without recent symptoms, where the thrombosis is an incidental finding. Symptoms depend on the extent and severity of thrombosis and often involve prolonged nonspecific abdominal complaints.
Isolated microspherophakia (ORPHA:519396)
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.
Isolated nail clubbing (ORPHA:217059)
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
Epidemiology
Prevalence is unknown.
Clinical description
Isolated congenital digital clubbing is often painless and usually symmetrical and bilateral. Sometimes, some fingers or toes are spared, but the thumbs are almost always involved.
Etiology
It results from proliferation of the connective tissues between the nail matrix and the distal phalanx and abnormal function of the nail matrix. The condition can be caused by autosomal recessive mutation of the HPGD gene (4q34-q35), but autosomal dominant forms without a known genetic cause have also been reported.

                            Last update: 
                            March 2010
Isolated neonatal sclerosing cholangitis (ORPHA:480556)
Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Isolated optic neuritis (ORPHA:499096)
A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.
Isolated osteopoikilosis (ORPHA:166119)
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.
Isolated partial vaginal agenesis (ORPHA:96269)
A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
Isolated patella aplasia/hypoplasia (ORPHA:86789)
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
Isolated posterior meningocele (ORPHA:268810)
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.
Isolated pseudoarthrosis of the limbs (ORPHA:157808)
A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.
Isolated pulmonary capillaritis (ORPHA:264691)
Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.
Isolated radial hemimelia (ORPHA:93321)
A rare congenital limb malformation characterized by partial or total absence of the radius.
Epidemiology
The disorder occurs in 1/5,000-30,000 live births, and is slightly more common in males than in females (sex ratio of 3:2).
Clinical description
The disorder is bilateral in 60% of cases and the right side is more commonly involved than the left. The degree of malformation varies greatly. In mild cases, only a minor shortening of the radius is present. In the most severe cases in contrast, the radius is completely absent (including presence of aberrant muscles, nerves, tendons, ligaments and blood vessels). The disorder is thus characterized by varying degree of deficiencies of the radius, carpal bones, and the thumb that produces radial deviation of the hand and marked shortening of the forearm. There may also be underdevelopment or absence of the thumb, and malformation of the elbow joint with restricted motion. Radial longitudinal deficiency is frequently (67%) associated with other congenital anomalies or syndromes, including chromosomal anomalies (trisomy 13, 18 and 21), Holt-Oram syndrome, Roberts syndrome, Rothmund-Thomson syndrome, thrombocytopenia-absent radius (TAR) syndrome, Townes-Brocks syndrome, VACTERL association and Fanconi anemia.
Etiology
The etiology remains unknown. The deformities are believed to develop early in pregnancy, between the 26th and 52th day of gestation. The disorder is being caused by reduction in FGF function.
Diagnostic methods
Diagnosis is based on clinical examination and X-rays. In utero, prenatal ultrasound may potentially detect this malformation and thus be a valuable imaging modality for early diagnosis.
Antenatal diagnosis
Prenatal diagnosis is possible using ultrasound, 3D-ultrasound or fetal magnetic resonance imaging.
Genetic counseling
Approximately 5-10% of cases are familial. Routine genetic counseling is recommended for these cases.
Management and treatment
Management aims at reducing the functional deficit. Initial therapy consists of straightening of the hand and stabilization of the wrist by serial splinting or casting that should be undertaken shortly after birth. Various surgical methods of correction have been described, such as soft tissue releases with or without ulnar osteotomy, soft tissue distraction to distalize the hand, centralization and radialization, pollicization, microvascular epiphyseal transfer and forearm lengthening.
Prognosis
The prognosis is generally good. If an early individualized treatment plan is followed a good clinical outcome can be achieved. However, the more extensive the radial longitudinal deficiency type, the more impaired is the finger function and mobility.

                            Last update: 
                            August 2020


                            - Expert reviewer(s): 
                            Pr Sebastian FARR  - Pr Christof RADLER
Isolated radio-ulnar synostosis (ORPHA:3269)
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
Isolated right ventricular hypoplasia (ORPHA:439)
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.
Isolated sedoheptulokinase deficiency (ORPHA:440713)
A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.
Isolated splenic vein thrombosis (ORPHA:583856)
A rare gastroenterologic disease characterized by isolated thrombotic obstruction of the splenic vein, typically due to pancreatic disorders, in particular acute or chronic pancreatitis or pancreatic neoplasms. It is the main cause of left-sided portal hypertension. Patients may be asymptomatic or present with abdominal pain, gastrointestinal bleeding, nausea, and vomiting, as well as signs of portal hypertension.
Isolated splenogonadal fusion (ORPHA:457083)
A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.
Isolated split hand-split foot malformation (ORPHA:2440)
A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.
Isolated sternocostoclavicular hyperostosis (ORPHA:178311)
Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.
Isolated succinate-CoQ reductase deficiency (ORPHA:3208)
A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.
Isolated tetra-amelia (ORPHA:294971)
A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.
Isolated thyroid-stimulating hormone deficiency (ORPHA:90674)
A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
Epidemiology
Prevalence is unknown.
Clinical description
The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age.
Etiology
Isolated TSH deficiency is transmitted in an autosomal recessive manner and is caused by mutations in the TSHB subunit gene (1p13).

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI