TaoMedAI/RareMedData huggingface dataset:
Non-distal duplication 10q (ORPHA:1695)
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
Non-distal duplication 13q (ORPHA:1702)
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
Non-distal duplication 9q (ORPHA:96112)
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome (ORPHA:2972)
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.
Non-functioning paraganglioma (ORPHA:94080)
A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.
Non-histaminic angioedema (ORPHA:658)
A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
Epidemiology
Prevalence is estimated at 1/100,000.
Clinical description
Two forms have been described: hereditary angioedema (HAE; 90% of cases) usually occurring in childhood or adolescence, and acquired angioedema (AAE) usually occurring after 50 years of age (see these terms). Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency. The edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. Laryngeal edema can be life-threatening with a risk of death of 25% in the absence of appropriate treatment. Dental procedures are a triggering factor for laryngeal edema. Edemas of the face are a risk factor for laryngeal involvement.
Etiology
Angioedema can be caused by quantitative or functional defects of the plasma protease C1 inhibitor (C1-INH encoded by the SERPING1 gene; 11q12-q13-1) or by gain-of-function mutations of coagulation factor 12 (Hageman factor; F12; 5q33-qter). Angioedema is triggered by bradykinin excess. Transmission of HAE is autosomal dominant and AAE may be associated with a lymphoproliferative syndrome or the presence of anti-C1-INH autoantibodies. It may also be a rare side effect of renin-angiotensin-aldosterone system blockers (RAAS-blocker-induced angioedema; see this term).
Diagnostic methods
Diagnosis is based on clinical findings, measurement of C4 concentrations and on quantitative and functional analysis of C1-INH. C1q levels are low in patients with AAE but are normal in patients with HAE.
Differential diagnosis
Differential diagnoses include intestinal occlusion syndrome and histamine-induced angioedema (of allergenic or nonallergenic origin) generally associated with urticaria.
Management and treatment
Management of acute attack includes administration of subcutaneous icatibant or intravenous administration of C1-INH concentrate. Tranexamic acid and danazol can be administered for long term prophylaxis. For the acquired form, management aims to treat the associated disease.
Prognosis
With proper diagnosis and treatment, prognosis for patients with HAE is good. The prognosis of AAE depends on the underlying disorder.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Pr Laurence BOUILLET
Non-Hodgkin lymphoma (ORPHA:547)
A heterogeneous group of malignant tumors of the lymphoid system.
Non-hypoproteinemic hypertrophic gastropathy (ORPHA:329883)
A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.
Non-insulinoma pancreatogenous hypoglycemia syndrome (ORPHA:276608)
A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.
Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.
Non-recovering obstetric brachial plexus lesion (ORPHA:439202)
A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.
Non-rhizomelic chondrodysplasia punctata (ORPHA:176)
Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
Epidemiology
The overall prevalence of these diseases as a group is unknown.
Clinical description
X-linked dominant chondrodysplasia punctata (or Conradi-Hünermann-Happle syndrome; see this term) is characterized by the association of asymmetrical limbs, lamellar ichthyosiform erythroderma and cataract that may be unilateral. Intelligence is normal. The disease predominantly affects females and is severe or even lethal in males. Brachytelephalangic chondrodysplasia (see this term) associates severe facial dysmorphism (Binder's maxillonasal dysostosis; see this term), calcifications predominantly found in the tarsus and lower limbs, and hypoplastic distal phalanges. Stature and intelligence are normal to near-normal. Other forms of non-rhizomelic chondrodysplasia punctata include chondrodysplasia punctata tibial-metacarpal type, Toriello-Higgins-Miller syndrome and chondrodysplasia punctata, Sheffield type (see these terms).
Etiology
X-linked dominant chondrodysplasia punctata is transmitted in an X-linked dominant manner and is caused by mutations in the EBP gene encoding an enzyme involved in cholesterol metabolism. Brachytelephalangic chondrodysplasia is inherited in an X-linked recessive manner and is caused by a mutation in the ARSE gene.
Diagnostic methods
Chondrodysplasia punctata may be detected by ultrasound follow up, most often in the later stages of pregnancy, but identification of the exact form requires biochemical investigations (screening for abnormal sterols and long chain fatty acid analysis) of amniotic fluid samples.
Differential diagnosis
Maternal intake of anticoagulants during pregnancy, deficiency of vitamin K-dependent coagulation factors and maternal vitamin K deficiency (see these terms) can cause symptoms that are very similar to those of brachytelephalangic chondrodysplasia punctata. Calcifications around the epiphyses may also be caused by fetal alcohol syndrome (see this term) and may be seen in fetuses born to mothers with disseminated lupus erythematosus (see this term).
Management and treatment
Treatment should be adapted depending on the form of chondrodysplasia punctata present.
Prognosis
Prognosis is very variable.

                            Last update: 
                            November 2008


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Non-seminomatous germ cell tumor of testis (ORPHA:363494)
A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.
Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
Non-specific interstitial pneumonia (ORPHA:91364)
A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are non-specific and include dyspnea, cough, and often constitutional symptoms such as fever and fatigue. Pulmonary function test reveals a restrictive pattern. Computed tomography shows predominantly lower lobe subpleural reticular changes, traction bronchiectasis, and ground-glass opacities. The cellular type of the disease is less common but carries a better prognosis.
Non-specific syndromic intellectual disability (ORPHA:528084)
A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.
Non-spherocytic hemolytic anemia due to hexokinase deficiency (ORPHA:90031)
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.
Non-syndromic anorectal malformation (ORPHA:557)
A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.
Epidemiology
They occur in approximately 1 in 5000 live births.
Clinical description
Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects (in approximately 50% of patients) and spinal anomalies. A cloaca is associated with a urological problem (such as obstructive uropathy) in 90% of babies and with hydrocolpos in 50%. Sacral anomalies (hemisacrum and sacral hemivertebrae) have been described; hemivertebrae may also affect the lumbar and thoracic spine, leading to scoliosis. A tethered spinal cord (in 25% of patients) may result in motor and sensory disturbances of the lower extremities. Syringomyelia and myelomeningocele can occur.
Etiology
The etiology remains unclear and is likely multifactorial. Familial cases have been described.
Diagnostic methods
The radiological evaluation of a newborn with imperforate anus should include an abdominal and pelvic ultrasound to evaluate for genitourinary defects as they need to be dealt with in the newborn period to avoid serious complications. Spinal ultrasound in the first three months of life and magnetic resonance imaging thereafter are useful radiological modalities for detecting spinal anomalies.
Differential diagnosis
ARM can occur in association with multisystem syndromes, such as Townes-Brocks syndrome, Currarino syndrome, Pallister-Hall syndrome, and Down syndrome (see these terms).
Genetic counseling
The risk of ARM for a sibling of a patient with ARM can reach 1%.
Management and treatment
Patients can either undergo a primary repair procedure (anoplasty) or a protective colostomy and definitive repair at a later date, depending on the malformation. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement between the rectum and genitourinary tract.
Prognosis
Early diagnosis, management of associated anomalies and efficient meticulous surgical repair can ensure a good functional outcome in terms of bowel and urinary control, and sexual function. However, fecal and urinary incontinence can occur due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions improves the quality of life.

                            Last update: 
                            July 2014


                            - Expert reviewer(s): 
                            Dr Marc LEVITT  - Pr Alberto PENA
Non-syndromic bilambdoid and sagittal craniosynostosis (ORPHA:1516)
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.
Non-syndromic hemimelia (ORPHA:2130)
Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.
Non-syndromic male infertility due to sperm motility disorder (ORPHA:276234)
Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.
Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.
Epidemiology
It is a relatively common malformation accounting for around 50% of all cases of nonsyndromic craniosynostosis and with an incidence of 1/5,000 live births. Males are more frequently affected than females (male/female ratio of 3.5:1) and the frequency of affected twins is unexpectedly high.
Clinical description
The premature fusion of the sagittal suture results in compensatory anteroposterior elongation of the skull. The mean cranial length is significantly increased and the sagittal suture is larger than normal. Frontal bossing and occipital bulging may occur depending on the extent of the premature fusion. Elevated intracranial pressure is rare and intelligence is usually normal.
Etiology
The underlying cause of isolated scaphocephaly remains to be determined: a mutation in the TWIST1 gene (7p21) has been reported in a single case. However, the concordance rate in monozygotic twins was found to be 30%, suggesting some cases might be genetically determined, whereas environmental determinants are involved in others.
Diagnostic methods
Diagnosis is based on clinical examination and radiological evaluation by X-rays, 3D CT scans and/or MRI of the skull.
Differential diagnosis
Sagittal synostosis can be isolated or occur as part of a syndrome (such as familial scaphocephaly with radioulnar synostosis or sagittal craniosynostosis with Dandy-Walker malformation and hydrocephalus; see these terms). The syndromic and nonsyndromic forms can be clearly distinguished due to the absence in isolated scaphocephaly of additional clinical features.
Genetic counseling
The majority of cases are sporadic but familial cases with autosomal dominant inheritance have been described (6% of all cases).
Management and treatment
Management may involve cranial vault reconstructive surgery to correct skull shape.
Prognosis
The clinical outcome of patients having undergone surgery is usually good with normal intelligence and psychomotor development.

                            Last update: 
                            December 2008


                            - Expert reviewer(s): 
                            Dr Jacky BONAVENTURE  - Pr Dominique RENIER
Non-syndromic syndactyly (ORPHA:90025)
A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type.
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (ORPHA:363972)
A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.
North Carolina macular dystrophy (ORPHA:75327)
A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
NPHP3-related Meckel-like syndrome (ORPHA:3032)
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.
Null syndrome (ORPHA:280234)
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
Epidemiology
Its prevalence is unknown. It predominantly affects males.
Clinical description
The disease manifests during childhood. Patients may have mild developmental delay, delayed sitting and walking beginning usually in the first 2 to 3 years of life, later associated with mild peripheral neuropathy, mild spastic quadriparesis, hyperreflexia, Babinski signs, ataxia, and/or mild intellectual deficit.  Patients do not have nystagmus. Although they usually are ambulatory during childhood and have good speech, patients with the null syndrome tend to decline more rapidly beginning in adolescence or early adulthood compared to patients with other PMD forms.
Etiology
The syndrome is due to null mutations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20).
Genetic counseling
The disease has an X-linked inheritance pattern.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr James GARBERN