TaoMedAI/RareMedData huggingface dataset:
WARS2-related combined oxidative phosphorylation defect (ORPHA:572798)
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, and with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.
Warsaw breakage syndrome (ORPHA:280558)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by pre- and postnatal growth restriction, microcephaly, mild to severe intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphism (with small and elongated face, bifrontal narrowing, epicanthus, short nose, small nares, dysplastic ears, and short neck). Additional variable features include limb malformations, cardiac anomalies, abnormal skin pigmentation, and recurrent infections, among others.
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome (ORPHA:568056)
A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.
Warty dyskeratoma (ORPHA:69745)
A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.
Weaver-Williams syndrome (ORPHA:3448)
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.
Weill-Marchesani syndrome (ORPHA:3449)
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Epidemiology
The prevalence is not documented. Short stature (usually below the third percentile) and brachydactyly are present in 98% of patients.
Clinical description
The following frequencies of ophthalmological manifestations are observed: myopia 94%, microspherophakia 84%, ectopia lentis 73%, glaucoma 80%, and cataract 23%. Other features include joint limitations, muscular build, thickened skin, and cardiac abnormalities (pulmonary valve stenosis, mitral valve insufficiency, aortic valve stenosis, ductus arteriosus, and ventricular septal defect). Intellectual deficit has been reported in 13% of cases and is always mild.
Etiology
Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described. The AR mode of inheritance appears to be more frequent and homozygous mutations within the ADAMTS10 gene (19p13.3-p13.2) have been found. ADAMTS10 is a member of the extracellular matrix protease family and is expressed in skin, fetal chondrocytes, and fetal and adult hearts. Electron microscopy and immunological studies of skin fibroblasts from WMS patients suggest that the syndrome is associated with impairment of the extracellular matrix. Heterozygous mutations within the FBN1 gene (15q21.1) have been identified in patients and are transmitted in an AD manner, giving another example of the large clinical expressivity of fibrillin-1.
Antenatal diagnosis
Prenatal diagnosis has never been reported.
Genetic counseling
Clinical homogeneity has been demonstrated despite the genetic heterogeneity in AR and AD families. However, this leads to difficulties in genetic counseling of sporadic cases. Some heterozygotes for AR WMS present with some mild clinical manifestations of the disease, such as brachydactyly.
Management and treatment
Patients should be followed for ophthalmologic complications in particular, and physiotherapy can be proposed for joint stiffness.
Prognosis
Prognosis is good.

                            Last update: 
                            May 2006


                            - Expert reviewer(s): 
                            Pr Laurence OLIVIER-FAIVRE
Weismann-Netter syndrome (ORPHA:3344)
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.
Weiss-Kruszka Syndrome (ORPHA:502430)
A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.
Well-differentiated fetal adenocarcinoma of the lung (ORPHA:284395)
Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.
Wells syndrome (ORPHA:901)
Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.
Epidemiology
Approximately 80 cases have been described in the literature.
Clinical description
The lesions are usually filled with fluid, tender and progress to form hardened plaques of edema and erythema. They usually resolve without scarring.
Diagnostic methods
Histological studies reveal flame figures and heavy infiltration of eosinophils and histiocytes.
Genetic counseling
The syndrome is usually sporadic but familial cases have been reported.

                            Last update: 
                            June 2006
West-Nile encephalitis (ORPHA:83476)
An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.
Western equine encephalitis (ORPHA:83593)
An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.
White fibrous papulosis of the neck (ORPHA:228290)
White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.
White forelock with malformations (ORPHA:2475)
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome (ORPHA:3207)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.
White platelet syndrome (ORPHA:370131)
White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.
White sponge nevus (ORPHA:171723)
White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.
Whooping cough (ORPHA:1489)
A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.
Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.
Epidemiology
More than 30 patients have been reported.
Clinical description
Facial characteristics include triangular face with a relatively large skull, large anterior fontanelle, prominent veins especially on the scalp, sparse scalp hair, decreased eyebrows and eyelashes, small mouth, and micrognathia. Natal teeth represent a common, but variable finding. The clinical spectrum is broad but intrauterine growth retardation and decreased subcutaneous fat have been reported as cardinal features. Mild to moderate intellectual disability is common. In survivors, a progressive ataxia and tremor develops later on. The syndrome is usually lethal in the first year of life but, on rare occasions, patients have survived into adulthood.
Etiology
The syndrome is caused by bi-allelic variants in POLR3A located at 10q22.3, which encodes a subunit of RNA polymerase III. The syndrome is allelic with 4H leukodystrophy and adolescent-onset progressive spastic ataxia.
Diagnostic methods
The diagnosis can be suspected by the clinical presentation and confirmed by molecular genetic testing.
Differential diagnosis
The syndrome can resemble the allelic conditions 4H leukodystrophy and adolescent-onset progressive spastic ataxia, and may also resemble endosteal sclerosis-cerebellar hypoplasia syndrome which is caused by variants in POLR3B. Other entities to be considered are Hutchinson-Gilford progeria syndrome, Nestor-Guillermo progeria syndrome, Fontaine syndrome, SHORT syndrome, and Marfan syndrome lipodystrophy type.
Antenatal diagnosis
Reliable prenatal diagnosis is possible if a pathogenic variant has previously identified in a family member.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing variant) informing them that there is a 25% risk of having an affected child at each pregnancy.
Management and treatment
No specific treatment is possible. General supportive care including help in coping with the progressive nature of the disorder is indicated.
Prognosis
Many reported patients died in the first year of life; however, survival into adulthood has also been reported. Survival beyond infancy and childhood is likely possible nowadays using careful, supportive care.

                            Last update: 
                            June 2021


                            - Expert reviewer(s): 
                            Pr Raoul HENNEKAM | ITHACA*


                                * European Reference Network
Wild type ABeta2M amyloidosis (ORPHA:85446)
A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.
Wildervanck syndrome (ORPHA:3456)
Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.
Epidemiology
It has been described in one family with affected members through 5 generations, almost exclusively females. Single additional sporadic cases have been reported.
Clinical description
Bilateral lens subluxation, facial paralysis, atrial septal defect, scoliosis, cholelithiasis have been found occasionally.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Multifactorial inheritance is likely; sex-linked dominance with lethality in the hemizygous male has been discussed.

                            Last update: 
                            November 2009
Williams-Campbell syndrome (ORPHA:411501)
A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.
Wilson-Turner syndrome (ORPHA:3459)
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Epidemiology
Prevalence of WTS is not known. The syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation Dutch family.
Clinical description
Affected males were described as having severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature (in the second family), small hands and feet, tapering fingers and facial dysmorphism including a small head, short ears, prominent supraorbital ridges, deep-set eyes, high malae, broad nasal tip, thin upper vermillion, and retrognathia. In obligate female carriers in the second family, a milder phenotype including learning disorders and recognizable facial features was reported. The described phenotype overlaps with Börjeson-Forssman-Lehmann syndrome, a form of X-linked intellectual disability. Differences between the two described families are small, but there is a possibility that they represent different clinical entities.
Etiology
The syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 HDAC8 gene (Xq13).
Genetic counseling
X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.

                            Last update: 
                            October 2015


                            - Expert reviewer(s): 
                            Dr J.K. [Hans Kristian] PLOOS VAN AMSTEL
Wolfram-like syndrome (ORPHA:411590)
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
Wolman disease (ORPHA:75233)
A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.
Epidemiology
Approximately 50 cases have been reported in the literature.
Clinical description
The disease can sometimes present in the fetus (hepatomegaly, ascitis, calcified adrenal glands), but onset more typically occurs in the first weeks of life with abdominal distension and major or even massive hepatosplenomegaly (which can occur in the neonatal period) and sometimes ascites. The presence of calcified adrenal glands (as revealed by radiography), is a common and very characteristic sign. . Children present with significant digestive disorders (such as vomiting and diarrhoea with steatorrhoea), which can lead to a sudden arrest of ponderal growth and progressive psychomotor degradation in the absence of specific neurological signs. Later, severe anemia and cachexia become apparent.
Etiology
The enzymatic deficiency results from severe mutations of the acid lipase gene (LIPAor LAL), localised to 10q24-q25.
Diagnostic methods
The diagnosis can be rapidly confirmed by measuring enzymatic activity in leucocytes or dried blood spots , revealing an almost total deficiency.
Differential diagnosis
Differential diagnosis includes familial hemophagocytic histiocytosis and other phagocytic syndromes, Gaucher disease type II, Niemann-Pick disease type A, and malignancies such as leukemia or neuroblastoma.
Antenatal diagnosis
Prenatal diagnosis can be performed by measuring enzymatic activity or by mutational analysis of chorionic villi or amniocytes.
Genetic counseling
The disease follows an autosomal recessive pattern of inheritance.
Management and treatment
Enzyme replacement therapy with sebelipase lipase is available in the US and the European union and has been shown to prolong survival. Very early bone marrow or cord blood transplant has also been used and has provided some benefit in a limited number of cases.
Prognosis
In the absence of definitive therapy, few children survive beyond one year of age. Enzyme replacement therapy, if started in a timely fashion, may prolong survival but the long term impact remains unknown.

                            Last update: 
                            April 2020


                            - Expert reviewer(s): 
                            Dr Barbara BURTON
Woodhouse-Sakati syndrome (ORPHA:3464)
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Epidemiology
Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far.
Clinical description
The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.
Etiology
Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.
Genetic counseling
The disease is transmitted in an autosomal recessive manner.

                            Last update: 
                            May 2009
Woolly hair nevus (ORPHA:79414)
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
Woolly hair-palmoplantar keratoderma syndrome (ORPHA:420686)
Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia (ORPHA:166277)
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.