TaoMedAI/RareMedData huggingface dataset:
Diabetic embryopathy (ORPHA:1926)
A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.
Epidemiology
Several reports show that the birth prevalence of congenital malformations can be cut by a third by using strict preconception glycemia control, but the challenge of implementing this approach remains.
Clinical description
Macrosomia is also a common problem among infants of women with established insulin-dependent diabetes mellitus. Excess mortality among infants of women with preexisting insulin-dependent diabetes mellitus is predominantly due to congenital malformations. All types of congenital malformations are involved, but some are more common. Notably, the risk of cardiovascular malformations (CVM) is increased, and specific studies show that preconceptional maternal diabetes is strongly associated with CVM of early embryonic origin and with cardiomyopathy (respective odds ratios are 5 and 15). CVM of early embryonic origin are laterality defects (cardiovisceral and atrioventricular discordance), outflow tract anomalies (an association was found between truncus arteriosus and double outlet right ventricle, and other anomalies with normally related great arteries but no association was found with simple transpositions), and anomalies of the endocardial cushion (an association was found with complete but not with partial forms of atrioventricular septal defects). CMV also include hypertrophic cardiomyopathy, which is generally benign and transient, although it may be lethal if associated with hydrops fetalis, especially in case of severe macrosomia. Other anomalies associated with maternal preconceptional diabetes are renal malformations, especially uni- or bilateral kidney agenesis. These ageneses are described as either isolated or of part of multiple malformation syndromes that are more common in individuals with maternal diabetes: caudal regression syndrome (a rare anomaly of the lower body pole that represents a continuum of congenital malformations ranging from isolated sacral agenesis to absence of the lumbosacral spine and major visceral anomalies) and DiGeorge anomaly (velo-cardio-facial syndrome).
Etiology
Cytogenetic studies of DiGeorge anomaly in individuals with maternal diabetes usually detect no abnormalities (i.e. do not uncover a 22q11 microdeletion).
Genetic counseling
In infants of women with established insulin-dependent diabetes mellitus, the risk of congenital malformations is 10 times higher than that in the general population, and the rate of stillbirths is five times higher than that in the general population.

                            Last update: 
                            February 2006


                            - Expert reviewer(s): 
                            Dr Elisabeth ROBERT-GNANSIA
Dianzani autoimmune lymphoproliferative disease (ORPHA:275523)
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.
Epidemiology
The prevalence of DALD is not known. The disorder has been reported in fewer than 30 patients to date.
Clinical description
Age of onset is highly variable, ranging from childhood to young adulthood. In patients with DALD, signs of autoimmunity include recurrent episodes of thrombocytopenia, neutropenia, and/or autoimmune hemolytic anemia. Lymphoadenopathy and/or splenomegaly are invariably noted. A possible increased risk of cancer has been suggested in these patients.
Etiology
The cause of DALD is not known but it is thought to be hereditary.
Diagnostic methods
Biologically, DALD is characterized by normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis.
Genetic counseling
The pattern of inheritance of DALD is not known.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Koneti RAO
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444)
A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.
Diaphanospondylodysostosis (ORPHA:66637)
A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.
Diaphragmatic defect-limb deficiency-skull defect syndrome (ORPHA:2141)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinicial features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.
Diaphragmatic hernia-short bowel-asplenia syndrome (ORPHA:527468)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
Diaphyseal medullary stenosis-bone malignancy syndrome (ORPHA:85182)
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).
Diastrophic dysplasia (ORPHA:628)
A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Epidemiology
Prevalence is estimated at 1-1.3/100,000. The disorder affects both males and females.
Clinical description
At birth, infants have bilateral clubfoot, short limb deformation of the wrists and abducted thumbs. Cleft palate and mandible hypoplasia are also common findings. Cysts appear on the external ear within the first months of life. Growth is slow and scoliosis is frequent and develops progressively. Joint deformations are severe and can lead to either limitation of joint movement or hyperlaxity. The severity of the clinical manifestations is variable, ranging from very severe to moderate forms that may be diagnosed very late.
Etiology
The syndrome is caused by mutations in the SLC26A2 (or diastrophic dysplasia sulfate transporter; DTDST) gene (5q31-q34), which encodes a sulfate transporter that is predominantly expressed in the cartilage. Mutations in the same gene have been implicated in a moderate form of epiphyseal dysplasia and in several lethal disorders such as achondrogenesis type 1b and atelosteogenesis type 2 (see these terms).
Diagnostic methods
Diagnosis is based on radiological findings: short and thick tubular bones, wide metaphyses, short and oval-shaped first metacarpals, subluxation of the thumb (hitchhiker thumb) and subluxation of the cervical vertebrae.
Antenatal diagnosis
Prenatal diagnosis may be suspected on the basis of ultrasound findings (clubfoot and short limbs).
Genetic counseling
The syndrome is transmitted in an autosomal recessive manner.
Management and treatment
Management should include careful monitoring and eventual correction of the progressive scoliosis, and surgical correction of the joint malformations.
Prognosis
In the absence of severe complications (spinal cord compression) associated with spinal malformations, life expectancy is good but the short stature and deformity are usually severe.

                            Last update: 
                            November 2008


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Diazoxide-resistant diffuse hyperinsulinism (ORPHA:165988)
Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (ORPHA:276603)
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (ORPHA:276598)
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
Diazoxide-resistant focal hyperinsulinism (ORPHA:79298)
A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide.
Diazoxide-resistant hyperinsulinism (ORPHA:276585)
A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.
Dicarboxylic aminoaciduria (ORPHA:2195)
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
Didelphys uterus (ORPHA:180086)
A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse. A longitudinal vaginal septum of variable thickness and elasticity is also present. Patients may be asymptomatic or experience dyspareunia or dysmenorrhea. There is increased frequency of endometriosis, as well as fertility and gestational issues with significantly reduced chances of seeing a pregnancy to term. The condition may be associated with renal agenesis.
Didymosis aplasticosebacea (ORPHA:370046)
A rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.
Diencephalic-mesencephalic junction dysplasia (ORPHA:319192)
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
Dietary iron overload disease (ORPHA:139507)
A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.
Diethylstilbestrol syndrome (ORPHA:1916)
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
Difference of sex development-intellectual disability syndrome (ORPHA:2983)
A rare syndrome with 46,XY difference of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.
Diffuse alveolar hemorrhage (ORPHA:90060)
A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.
Diffuse astrocytoma (ORPHA:251595)
A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome (ORPHA:404437)
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.
Diffuse intrinsic pontine glioma (ORPHA:497188)
A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.
Diffuse large B-cell lymphoma with chronic inflammation (ORPHA:300888)
Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.
Diffuse large B-cell lymphoma (ORPHA:544)
Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.
Diffuse leptomeningeal melanocytosis (ORPHA:252031)
Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.
Diffuse lymphatic malformation (ORPHA:141209)
A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.
Diffuse palmoplantar keratoderma with painful fissures (ORPHA:369999)
A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.
Diffuse palmoplantar keratoderma-acrocyanosis syndrome (ORPHA:86918)
Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.
Diffuse panbronchiolitis (ORPHA:171700)
Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
Digestive duplication cyst of the tongue (ORPHA:141071)
Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.
Digital extensor muscle aplasia-polyneuropathy (ORPHA:2926)
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
Digitalis poisoning (ORPHA:31828)
A rare, potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.
Dihydropyrimidine dehydrogenase deficiency (ORPHA:1675)
A rare disorder of pyrimidine metabolism characterized by a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.
Dihydropyrimidinuria (ORPHA:38874)
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.