TaoMedAI/RareMedData huggingface dataset:
Dilated cardiomyopathy with ataxia (ORPHA:66634)
Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
Epidemiology
To date, all cases of DCMA reported involve individuals from the Dariusleut Hutterite population, an endogamous population of the Great Plains region of Canada and the northern United States.
Clinical description
Prenatal or postnatal growth failure, significant motor delay (due to cerebellar syndrome with ataxia) and male genital anomalies (ranging from isolated cryptorchidism to severe perineal hypospadias) are very frequent clinical signs. Additional features include optic atrophy, a mild increase in hepatic enzymes with microvesicular hepatic steatosis, a normochromic microcytic anemia, and mild to borderline non-progressive intellectual deficit.
Etiology
DCMA is caused by mutation of the DNAJC19 gene (encoding the DNAJC19 protein localized to the mitochondria in cardiac myocytes).
Differential diagnosis
DCMA syndrome shares some clinical features with the X-linked Barth syndrome and the other 3-methylglutaconic acidurias (types I, III and IV; see these terms).
Genetic counseling
DCMA is an autosomal recessive condition.
Prognosis
In a clinical study of 18 DCMA patients, over 70% of patients died from either progressive cardiac failure or sudden cardiac death. Improvement with standard medical treatment or complete resolution of the DCM has been reported in some patients.

                            Last update: 
                            January 2007
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (ORPHA:2229)
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
Epidemiology
Prevalence is unknown but less than 20 affected families have been described in the literature so far.
Clinical description
Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies, metabolic abnormalities, thyroid hemiagenesis, collagenoma, diabetes mellitus, and thyroid hemiagenesis.
Etiology
Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).
Genetic counseling
Transmission appears to be autosomal recessive.

                            Last update: 
                            May 2009
Dimethylglycine dehydrogenase deficiency (ORPHA:243343)
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Diphallia (ORPHA:227)
A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.
Diphtheria (ORPHA:1679)
A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.
Diphyllobothriasis (ORPHA:128)
Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).
Epidemiology
The prevalence is Europe is unknown but more than 10 cases are reported each year, principally from the Italian, Swiss and French Alps.
Etiology
It is an adult cestodosis caused by the large (more than 10 metres) fish tapeworm Diphyllobothrium latum. The life cycle of the parasite is complex and involves two intermediate hosts: a microscopic crustacean, followed by a freshwater fish. Mammals are contaminated through eating fleshy parts of lightly cooked, smoked or undersalted fish.
Diagnostic methods
Diagnosis is made by examination of the stools.
Management and treatment
Standard tapeworm treatments (niclosamide or praziquantel) are effective at treating this parasitosis.

                            Last update: 
                            December 2006


                            - Expert reviewer(s): 
                            Dr Luc PARIS
Diprosopus (ORPHA:1681)
Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.
Dirofilariasis (ORPHA:166291)
Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.
Discoid lupus erythematosus (ORPHA:90281)
A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.
Discrete papular lichen myxedematosus (ORPHA:90394)
Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.
Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
Dissecting cellulitis of the scalp (ORPHA:345)
Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.
Disseminated peritoneal leiomyomatosis (ORPHA:71274)
Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.
Epidemiology
Fewer than 150 cases have been reported in the literature to date.
Clinical description
DPL manifests during adulthood and is predominantly found in women. Most patients are asymptomatic but clinical features such as abdominal and pelvic pain, rectal or vaginal bleeding and, more rarely, gastrointestinal disorders have been reported. Malignant transformation is rare and in a few cases, metastases have been found in the liver and lungs.
Etiology
Etiology is unknown but DPL seems to be a multifactorial disease with a genetic or hormonal component (high levels of estrogen and progesterone) leading to metaplasia of peritoneal mesenchymal cells. In some women, DPL seems to originate from proliferation of fragments of uterine leiomyoma in the abdominal cavity after laparoscopic surgery.
Diagnostic methods
Imaging techniques such as ultrasound examination are required for detection of DPL. Diagnosis is confirmed by biopsy of the nodules which reveals the presence of smooth-muscle cells with no atypia or necrosis, fibroblasts and myofibroblasts.
Differential diagnosis
Differential diagnosis includes parasitic leiomyoma, intravenous leiomyomatosis and other primitive or secondary peritoneal carcinomatoses.
Management and treatment
Depending on the extent of the disease, first-line treatment for DPL is surgical excision or cytoreductive surgery. Hormone intake (e.g. oral contraceptives) must be discontinued. Systemic chemotherapy (off-label use) has been suggested as a treatment option for the rare cases of unresectable or metastatic tumors.
Prognosis
Prognosis is usually good. Death has however been observed in some cases presenting unresectable or metastatic tumors.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Pr Olivier GLEHEN
Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
Distal 17p13.1 microdeletion syndrome (ORPHA:319171)
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Distal 17p13.3 microdeletion syndrome (ORPHA:261257)
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
Distal 22q11.2 microdeletion syndrome (ORPHA:261330)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo .
Distal 22q11.2 microduplication syndrome (ORPHA:261337)
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.
Distal 7q11.23 microdeletion syndrome (ORPHA:254351)
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Distal 7q11.23 microduplication syndrome (ORPHA:261102)
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
Distal arthrogryposis type 10 (ORPHA:251515)
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.
Distal arthrogryposis type 5D (ORPHA:329457)
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
Distal arthrogryposis (ORPHA:97120)
A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.
Distal deletion 10q (ORPHA:96148)
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
Epidemiology
Prevalence is unknown but around 40 cases have been described in the literature so far.
Clinical description
There is no specific clinical feature associated with this chromosome anomaly. Craniofacial features include hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears. Hypotonia is frequent, and limited joint extensions and early scoliosis have been reported in a few cases. Cardiac defects are not a constant finding and vary to include patent ductus arteriosus, ventricular septal defect, tetralogy of Fallot and truncus arteriosus (see these terms). Genital abnormalities have been mostly reported in males and include undescended testis, micropenis and a posterior urethral valve. Bladder distension due to cervical dysfunction may occur in females and may be evident during the antenatal period. Severe genital abnormalities (ambiguous external genitalia) have been reported in a few cases. Psychomotor retardation (generally described as mild) was present in all reported cases.
Etiology
Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis.
Diagnostic methods
Diagnosis is made by molecular analysis. Comparative genomic hybridization (CGH) microarray or subterminal chromosome multiplex ligation-dependent probe amplification (MLPA) may be necessary since conventional cytogenetic analysis may not be sensitive enough to detect very short subterminal deletions.
Antenatal diagnosis
Antenatal molecular testing for the presence of a subterminal 10q deletion may be proposed in case of suspicion of a posterior urethral valve in males (associated or not with genital abnormalities) or in case of bladder distension in female fetuses. The risk of recurrence is low but prenatal screening for chromosomal abnormalities must be proposed, with the use of FISH markers for the 10q subterminal region.
Management and treatment
Management is symptomatic only. Bladder dysfunction may require transient cystostomy. Special education programs to improve cognitive development are needed in most cases.
Prognosis
The prognosis is unclear as there are no available data concerning long-term follow up, especially up until adult age.

                            Last update: 
                            September 2008


                            - Expert reviewer(s): 
                            Pr Bruno LEHEUP
Distal deletion 12p (ORPHA:280325)
A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Distal deletion 12q (ORPHA:96149)
A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others.
Distal deletion 13q (ORPHA:1590)
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
Distal deletion 14q (ORPHA:96150)
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.
Distal deletion 15q (ORPHA:1596)
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Distal deletion 17q (ORPHA:1597)
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.
Distal deletion 19p (ORPHA:96129)
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).
Distal deletion 1q (ORPHA:36367)
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Distal deletion 3p (ORPHA:1620)
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
Distal deletion 4q (ORPHA:96145)
A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.