TaoMedAI/RareMedData huggingface dataset:
Neonatal autoimmune hemolytic anemia (ORPHA:398109)
A rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.
Neonatal brainstem dysfunction (ORPHA:137929)
Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.
Neonatal dermatomyositis (ORPHA:398117)
A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome (ORPHA:79118)
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (ORPHA:457185)
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.
Neonatal epileptic encephalopathy due to glutaminase deficiency (ORPHA:557064)
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
Neonatal glycine encephalopathy (ORPHA:289857)
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Epidemiology
The prevalence of neonatal glycine encephalopathy is not known.
Clinical description
Patients develop disease manifestations within the first hours or days of life. Symptoms include progressive lethargy, hypotonia, myoclonic jerks leading to apnea. In the absence of intubation and ventilation, apnea may be fatal. With supportive measures, most patients regain spontaneous respiration and some show improvement in alertness over time. Subsequently, they have profound intellectual deficit and increasingly intractable seizures over the first year of life, which often require multiple anticonvulsants. In the vast majority of cases (85%), the course is severe, but some patients have a milder course and less severe clinical outcome. In severe cases, patients make little developmental progress and have limited interaction with their environment. Early spasticity, scoliosis and club feet have also been reported. In milder cases, developmental progress is considerably greater with patients learning to walk and interact, and seizures are generally easier to treat.
Etiology
Mutations in two genes are known to cause glycine encephalopathy: GLDC (9p22), AMT (3p21.2-p21.1).
Genetic counseling
Neonatal GE is inherited in an autosomal recessive manner.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                             Shigeo KURE
Neonatal hemochromatosis (ORPHA:446)
A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin.
Neonatal hypoxic and ischemic brain injury (ORPHA:137577)
A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.
Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
Epidemiology
Less than ten patients (from unrelated consanguineous Moroccan families and from Sweden) have been reported so far.
Clinical description
The ichthyosis presents with diffuse white scales sparing the skin folds, and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly, and biochemical cholestasis. Overall, the clinical picture mimics biliary atresia (see this term). Portal hypertension, patent extrahepatic bile duct obstruction and splenomegaly may also be present. Histology shows extensive fibrosis and bile duct proliferation. Leukocyte vacuolization is a common finding. The hepatic disease may have variable expressivity, ranging from a progressive disease resulting in liver failure to regression of cholestasis.
Etiology
NISCH syndrome is caused by a mutation in the CLDN1 gene coding for the tight junction protein claudin-1.
Diagnostic methods
Diagnosis is based on clinical, biochemical and histological features.
Differential diagnosis
The differential diagnosis should include Dorfman-Chanarin syndrome and other syndromic forms of ichthyosis (see these terms).
Genetic counseling
NISCH syndrome shows an autosomal recessive pattern of inheritance.
Management and treatment
Treatments aim at improving symptoms and survival. Liver transplant remains the only effective treatment in case of liver failure. Ichthyosis is managed by hydration of the skin (topical application of creams and emollient oils), retinoids and sunlight exposure.

                            Last update: 
                            April 2008


                            - Expert reviewer(s): 
                            Pr Dominique VALLA
Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
Neonatal intrahepatic cholestasis due to citrin deficiency (ORPHA:247598)
A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Neonatal iodine exposure (ORPHA:238688)
Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.
Neonatal lupus erythematosus (ORPHA:398124)
A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.
Neonatal Marfan syndrome (ORPHA:284979)
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
Neonatal scleroderma (ORPHA:398127)
A rare secondary neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect (ORPHA:466784)
A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.
Neonatal severe primary hyperparathyroidism (ORPHA:417)
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
Epidemiology
The prevalence is unknown.
Clinical description
The clinical manifestations are early (with onset occurring during the first days of life) and severe, including respiratory distress due to hypotonia and rib cage deformities, bone under mineralization, and multiple fractures, all of which influence the immediate vital prognosis.
Etiology
NSHPT is associated in most cases with homozygous inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR), a member of the subfamily of G protein-coupled transmembrane receptors. CaSR plays a key role in the regulation of phosphocalcic metabolism by controlling parathyroid hormone (PTH) secretion and calcium urinary excretion in response to variations in serum calcium levels.
Diagnostic methods
Biologically, children present with extremely high serum calcium and serum PTH levels and a relative hypocalciuria, but in some cases they present with a markedly elevated calciuria.
Differential diagnosis
'Familial hypocalciuric hypercalcemia (FHH; see this term) is a differential diagnosis. Hypercalcemia is usually milder and PTH levels are lower in FHH than in NSHPT and FHH is asymptomatic in most cases.'
Antenatal diagnosis
Prenatal diagnosis might be proposed to parents if they are both suffering from FHH.
Genetic counseling
NSHPT represents the homozygous form of FHH and is transmitted as an autosomal recessive trait. However, sporadic forms of NSHPT occur and are associated with a heterozygous de novo mutation in the CASR gene. To date, there have been no reports of severe neonatal hyperparathyroidism with homozygous mutations in those with FHH type 2 or 3 (see these terms) but their molecular identification is still too recent to make any definite conclusions.
Management and treatment
The control of hypercalcemia is often obtained through progressive therapeutic intervention involving the use of bisphosphonates, dialysis or even calcimimetics. If this is unsuccessful, a total parathyroidectomy is required. After parathyroidectomy, life-long treatment with 1-alpha hydoxylated vitamin D is required.
Prognosis
Patients can die from complications of hypercalcemia during the neonatal period from respiratory distress and dramatic hypercalcemia.

                            Last update: 
                            May 2014


                            - Expert reviewer(s): 
                            Pr Anne LIENHARDT-ROUSSIE
Neovascular glaucoma (ORPHA:94058)
Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.
Nephrogenic systemic fibrosis (ORPHA:137617)
Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.
Nephropathy-deafness-hyperparathyroidism syndrome (ORPHA:2668)
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.
Nephrosis-deafness-urinary tract-digital malformations syndrome (ORPHA:2669)
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome (ORPHA:300333)
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.
Nestor-Guillermo progeria syndrome (ORPHA:280576)
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.
Neu-Laxova syndrome (ORPHA:2671)
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Epidemiology
About 60 cases of this syndrome have been reported from diverse ethnic backgrounds.
Clinical description
Severe central nervous system (CNS) defects are present: lissencephaly type III, hypoplastic cerebellum and brainstem, enlarged ventricles, and sometimes intracerebral calcifications, Dandy-Walker anomaly or agenesis of the corpus callosum. Facial features include severe proptosis with ectropion (giving the impression of missing eyelids), hypertelorism, micrognathia, flattened nose, and malformed ears. The lips are thick with a round, gaping mouth. Other inconstant malformations include abnormal limbs (contractures and, sometimes, radial ray defects), abnormal external genitalia, and arthrogryposis multiplex. Clinical features show significant intra and interfamilial variation.
Diagnostic methods
The diagnosis is easily made at birth on the basis of the clinical malformations. The histopathological findings include a triad of dermatological features (ichthyosis, massive fat with hypertrophy of fat cells, oedema), poor formation of the cortical bone, and central nervous system (CNS) anomalies.
Antenatal diagnosis
Routine ultrasonography (at 19 to 20 weeks of gestation) may show polyhydramnios, IUGR, hypoechogenic skeletal structures, microcephaly, prominent eyes, retrognathism, hypomobility with flexion deformities. It also shows massive swelling of the scalp, knee, elbow joints, hands and feet, giving the impression of absent digits. At risk pregnancies should be carefully monitored by ultrasonography: at 6-8 weeks for accurate dating, at 12-16 weeks for analysis of activefoetal limb movements, and at 16-24 weeks for the detection of facial and skeletal anomalies, IUGR and polyhydramnios.
Genetic counseling
The syndrome is transmitted in an autosomal recessive manner. Parents should be informed of a 25% recurrence rate in future offspring.
Prognosis
The prognosis is poor: affected newborns either are stillborn or die immediately after birth.

                            Last update: 
                            October 2006


                            - Expert reviewer(s): 
                            Pr Alain VERLOES
Neuhauser anomaly (ORPHA:99078)
Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).
Neuhauser-Eichner-Opitz syndrome (ORPHA:2672)
A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.
Neurenteric cyst (ORPHA:268865)
A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.
Neuroacanthocytosis (ORPHA:263440)
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
Epidemiology
NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5/1,000,000 for each disorder.
Clinical description
NA syndromes include choreacanthocytosis, McLeod neuroacanthocytosis syndrome, pantothenate-kinase-associated neurodegeneration, and Huntington disease-like 2 (see these terms) which have a Huntington disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Cardiomyopathy including arrhythmias may occur in McLeod syndrome.
Etiology
NA syndromes are caused by disease-specific genetic mutations. The mechanisms by which these mutations cause neurodegeneration are not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway.
Genetic counseling
Choreacanthocytosis follows an autosomal recessive pattern of inheritance, McLeod neuroacanthocytosis syndrome an X-linked pattern, and Huntington disease-like 2 an autosomal dominant pattern.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                            Pr Hans JUNG
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (ORPHA:88639)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the  HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.