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Hernia, Double Inguinal
Omim
Hernia occurs, of course, in the Marfan (154700) and Ehlers-Danlos (130000) syndromes. Abdomen - Bilateral inguinal hernia Inheritance - Autosomal dominant with sex influence ▲ Close
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Ricin Poisoning
Orphanet
Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection).
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Non-Functioning Neuroendocrine Tumor Of Pancreas
Orphanet
A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas.
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Distal Trisomy 16q
Orphanet
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus).
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Laryngotracheoesophageal Cleft Type 0
Orphanet
Clinical description Subjects with type 0 LC may have no obvious symptoms or mild symptoms such as occasional aspirations. Syndromic associations may be present. The anomaly is often detected during endoscopy indicated for other reasons.
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Malignant Non-Dysgerminomatous Germ Cell Tumor Of Ovary
Orphanet
Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.
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Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Orphanet
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia.
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Benign Infantile Seizures Associated With Mild Gastroenteritis
Orphanet
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances.
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Striae Distensae, Familial
Omim
Striae distensae occur, especially in the deltoid, pectoral, hip and thigh areas, in the Marfan syndrome (154700) and there are sometimes very striking transverse striae in the lumbar area identical to those seen on an apparently idiopathic basis.
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Microcheilia
Wikipedia
Microcheilia Specialty Medical genetics Microcheilia is a congenital disorder where one's lips are unusually small. [1] References [ edit ] ^ " microcheilia " at Dorland's Medical Dictionary External links [ edit ] Classification D ICD - 10 : Q18.7 ICD - 9-CM : 744.82 SNOMED CT : 1150009 v t e Congenital malformations and deformations of face and neck Face jaw : Otocephaly mouth : Macrostomia Microstomia lip : Macrocheilia Microcheilia chin : Microgenia multiple/other: Hallermann–Streiff syndrome Branchial cleft cyst Neck Webbed neck Ungrouped Preauricular sinus and cyst This genetic disorder article is a stub .
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Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Orphanet
PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive.
- Spondylometaphyseal Dysplasia, 'corner Fracture' Type Orphanet
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Sporadic Adult-Onset Ataxia Of Unknown Etiology
Orphanet
Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause.
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Hyperkeratotic Cutaneous Capillary-Venous Malformation
Wikipedia
Hyperkeratotic cutaneous capillary-venous malformation Specialty Dermatology Hyperkeratotic cutaneous capillary-venous malformation is a cutaneous condition characterized also by inherited cerebral capillary malformations . [1] See also [ edit ] Lowry–MacLean syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Phosphoenolpyruvate Carboxykinase Deficiency
Orphanet
Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy.
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Schneckenbecken Dysplasia
Orphanet
Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus. Etiology This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31) Genetic counseling Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.
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Primary Mediastinal Large B-Cell Lymphoma
Orphanet
Primary mediastinal B-cell lymphoma (PMBL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL; see this term), arising from B cells of thymic origin, that affects mainly women between the ages of 20-30, that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.XPO1, BCL6, MAL, JAK2, CD274, MYC, MS4A1, PDCD1LG2, KRT20, SOCS1, CIITA, PAX5, FSCN1, IL4, BCL2, GATA3, FOXP1, CGB8, REL, RPE65, SLC22A2, SOAT1, STAT6, TNFAIP3, IL4I1, UVRAG, CGB5, CHRDL2, TCL1A, TP63, CARD11, AICDA, CD83, PIK3CG, TCL1B, CKAP4, POU2F2, AKT1, PIK3CD, PIK3CB, BCL2A1, CD19, TNFRSF8, CGA, CGB3, EZH2, FCER2, FUT4, HTC2, IGH, JCHAIN, IL3RA, IL4R, IL13, MAOA, BORCS8-MEF2B, KMT2A, CD200, NFKB1, NFKBIE, NOS1, NOS2, CCND1, PDCD1, PIK3CA, MEF2B
- Clear Cell Papillary Renal Cell Carcinoma Orphanet
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Isolated Focal Cortical Dysplasia
Orphanet
Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances.
- Fadd-Related Immunodeficiency Orphanet