Flexion contracture, and Gastrointestinal hemorrhage
Diseases related with Flexion contracture and Gastrointestinal hemorrhage
In the following list you will find some of the most common rare diseases related to Flexion contracture and Gastrointestinal hemorrhage that can help you solving undiagnosed cases.
Low match HEMOPHILIA A; HEMA
Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).
HEMOPHILIA A; HEMA Is also known as hemophilia, classicRelated symptoms:
- Flexion contracture
- Peripheral neuropathy
More info about HEMOPHILIA A; HEMA
Low match LYNCH SYNDROME
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndromeRelated symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER
Other less relevant matches:
Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoliRelated symptoms:
- Generalized hypotonia
- Muscle weakness
- Muscular hypotonia
More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasiaRelated symptoms:
- Short stature
- Generalized hypotonia
- Hearing impairment
- Growth delay
More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
Low match EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndrRelated symptoms:
- Global developmental delay
- Short stature
More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).
PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|keratoRelated symptoms:
More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME
Low match BUDD-CHIARI SYNDROME
Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.Related symptoms:
More info about BUDD-CHIARI SYNDROME
Low match GASTROINTESTINAL STROMAL TUMOR
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gistRelated symptoms:
More info about GASTROINTESTINAL STROMAL TUMOR
Low match GLUCAGONOMA
Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.
GLUCAGONOMA Is also known as glucagonoma syndromeRelated symptoms:
- Diabetes mellitus
More info about GLUCAGONOMA
Top 5 symptoms//phenotypes associated to Flexion contracture and Gastrointestinal hemorrhage
|Symptoms // Phenotype||% cases|
|Pain||Common - Between 50% and 80% cases|
|Neoplasm||Common - Between 50% and 80% cases|
|Weight loss||Uncommon - Between 30% and 50% cases|
|Intestinal obstruction||Uncommon - Between 30% and 50% cases|
|Nausea and vomiting||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Flexion contracture and Gastrointestinal hemorrhage. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesAbdominal pain Constipation Hepatomegaly Migraine Sepsis Thin skin Blindness Bruising susceptibility Carcinoma Arthritis Ascites Depressivity Edema Fatigue Hypermelanotic macule Hypertension Generalized hypotonia Fever Thromboembolism Skin rash
Rare Symptoms - Less than 30% casesAbdominal distention Joint hyperflexibility Vomiting Diarrhea Glaucoma Osteoporosis Inguinal hernia Pectus excavatum Hernia Dilatation Myopathy Splenomegaly Postnatal growth retardation Nausea Pallor Respiratory insufficiency Talipes equinovarus Epicanthus Cryptorchidism Joint hypermobility Muscle weakness Peritonitis Vertigo Esophageal neoplasm Urticaria Recurrent pneumonia Nephrotic syndrome Gastrointestinal infarctions Dental crowding Abnormal bleeding Epidermal acanthosis Hyperkeratosis Narrow mouth Proptosis Scarring Abnormality of skin pigmentation Abnormality of the skin Hyperpigmentation of the skin Anemia Osteolysis Prematurely aged appearance Premature loss of teeth Narrow nose Osteolytic defects of the phalanges of the hand Varicose veins Diabetes mellitus Hypospadias Mitral valve prolapse Aortic dissection Blue sclerae Insulin resistance Increased body weight Joint dislocation Aortic aneurysm Cataract Poor appetite Abnormality of the dentition Bladder diverticulum Arterial dissection Arterial rupture Molluscoid pseudotumors Short stature Dysphagia Keratoconus Alopecia Arthropathy Muscular dystrophy Malabsorption Leiomyosarcoma Visual impairment Gait disturbance Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Arthralgia Stomatitis Seizures Stroke Osteoarthritis Neoplasm of the rectum Muscular hypotonia Scoliosis Growth delay Hypertelorism Intracranial hemorrhage Global developmental delay Arterial stenosis Scleroderma Hematuria Abnormal joint morphology Abnormal oral frenulum morphology Fragile skin Abnormal heart valve morphology Narrow nasal bridge Telangiectasia of the skin Esophageal atresia Macule Aplasia/Hypoplasia of the eyebrow Abnormality of the gingiva Colonic diverticula Melanocytic nevus Rheumatoid arthritis Redundant skin Hemoptysis Alopecia of scalp Sprengel anomaly Excessive wrinkled skin Periorbital edema Pneumothorax Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Ocular pain Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Abnormality of hair texture Hematochezia Premature loss of primary teeth Abnormally large globe Ascending tubular aorta aneurysm Gingivitis Transient ischemic attack Dermal translucency Abnormal eyelash morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Periodontitis Abnormal intestine morphology Hypokalemia Bird-like facies Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Mottled pigmentation Stiff elbow Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Vertebral compression fractures Foamy urine Ptosis Abnormality of the urinary system Premature birth Tinnitus Sleep apnea Short chin Congenital hip dislocation Cardiac arrest Gingival overgrowth Telangiectasia Subcutaneous nodule Abnormality of the face Microdontia High, narrow palate Cognitive impairment Flat face Thin vermilion border Carious teeth Hip dislocation Protruding ear Telecanthus Deeply set eye Umbilical hernia Abnormality of cardiovascular system morphology Hydrocephalus Macrocephaly Internal hemorrhage Failure to thrive Cigarette-paper scars Lipoma Neoplasm of the gastrointestinal tract Gastrointestinal obstruction Neoplasm of the stomach Neoplasm of the colon Neoplasm of the small intestine Mastocytosis Soft tissue sarcoma Gastrointestinal stroma tumor Schwannoma Paraganglioma Irregular hyperpigmentation Pruritus Neurofibromas Large hands Sarcoma Eosinophilia Abnormality of the liver Coarse facial features Hepatic vein thrombosis Reduced protein C activity Budd-Chiari syndrome Portal vein thrombosis Giant hypertrophic gastritis Abnormal blistering of the skin Esophageal varix Acanthocytosis Necrolytic migratory erythema Lack of bowel sounds Glossitis Subcutaneous lipoma Extrahepatic cholestasis Normochromic anemia Adrenocortical adenoma Intermittent jaundice Parathyroid adenoma Primary hyperparathyroidism Chronic fatigue Anorexia Intrahepatic cholestasis Prolactin excess Episodic abdominal pain Abnormality of abdomen morphology Increased circulating cortisol level Growth hormone excess Increased circulating gonadotropin level Abnormality of the thyroid gland Steatorrhea Hypercalcemia Cholecystitis Hypercoagulability Arteriovenous fistula Hypoplastic lacrimal duct Palmoplantar hyperkeratosis Thickened skin Ectodermal dysplasia Postural instability Palmoplantar keratoderma Gastroesophageal reflux Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Arteriovenous fistulas of celiac and mesenteric vessels Oral-pharyngeal dysphagia Uterine prolapse Uterine rupture Foot acroosteolysis Spontaneous pneumothorax Coronary artery aneurysm Gingival recession Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Poor suck Squamous cell carcinoma Acute hepatic failure Peripheral neuropathy Polycythemia Portal hypertension Myocardial infarction Cirrhosis Elevated hepatic transaminase Jaundice Esophageal leukoplakia Abnormal large intestine morphology Abnormality of esophagus physiology Esophageal carcinoma Diffuse palmoplantar hyperkeratosis Parakeratosis Abnormality of the mediastinum Clubbing of toes Plantar hyperkeratosis Esophageal stricture Stomach cancer Hypergranulosis Oral leukoplakia Follicular hyperkeratosis Esophagitis Hiatus hernia Abnormality of the mouth Pulmonary artery aneurysm Reduced subcutaneous adipose tissue Progeroid facial appearance Depressed nasal bridge Abnormality of metabolism/homeostasis Ovarian neoplasm Kyphosis Congestive heart failure Respiratory distress Intestinal polyposis Myopia Prostate cancer Motor delay Low-set ears Colon cancer Dysgraphia Amaurosis fugax Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Neuroblastoma Visual field defect Chills Breast carcinoma Hallucinations Generalized muscle weakness Microcornea Single transverse palmar crease Polyneuropathy Retinal detachment Increased intracranial pressure Unsteady gait Arachnodactyly Talipes Dolichocephaly Prominent forehead Pectus carinatum Retinopathy Hyperlordosis Joint laxity Neonatal hypotonia Pes planus Osteopenia Kyphoscoliosis Hemiplegia/hemiparesis Basal cell carcinoma Increased IgA level Recurrent aphthous stomatitis Overgrowth Erythema Neoplasm of the skeletal system Abnormality of creatine metabolism Retinal dystrophy Lymphadenopathy Cardiac diverticulum Infertility Papule Cough Urinary tract neoplasm Nyctalopia Intellectual disability Aciduria Myalgia Hepatosplenomegaly Hyperhidrosis Rod-cone dystrophy Pneumonia Headache Renal insufficiency Microcephaly Ataxia Frontal bossing Limitation of joint mobility Dehydration Large forehead Pancreatic adenocarcinoma Acrocyanosis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Leukocytosis Eczema Glioblastoma multiforme Apathy Agnosia Purpura Conjunctivitis Vasculitis Neoplasm of the thyroid gland Long eyelashes Benign neoplasm of the central nervous system Optic disc pallor Esotropia Memory impairment Down-sloping shoulders Hypotrichosis Abnormality of the cardiovascular system Convex nasal ridge Joint hemorrhage Dental malocclusion Round face Full cheeks Short distal phalanx of finger Spontaneous hematomas Delayed puberty Nail dystrophy Sparse scalp hair Reduced factor VIII activity Sparse hair Paralysis Joint stiffness Abnormality of the kidney Proximal muscle weakness Rigidity Retrognathia Intraventricular hemorrhage Persistent bleeding after trauma Hypertriglyceridemia Large fontanelles Oral cavity bleeding Hyperglycemia Insulin-resistant diabetes mellitus Joint swelling Short clavicles Abnormality of the elbow Spinal rigidity Delayed cranial suture closure High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Absent eyebrow Prolonged partial thromboplastin time Congenital muscular dystrophy Glomerulosclerosis Hyperinsulinemia Lipodystrophy Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Dyschromatopsia Wormian bones Intramuscular hematoma Bleeding with minor or no trauma Oligohydramnios Spina bifida occulta Slender finger Abnormality of the hip bone Atrophic scars Disproportionate tall stature Heart murmur Irritability Hyperextensible skin Corneal dystrophy Aortic regurgitation Torticollis Abnormal pyramidal sign Aortic root aneurysm Hyperbilirubinemia Attention deficit hyperactivity disorder Spina bifida Joint contracture of the hand Neurological speech impairment Tall stature Paresthesia Dyskinesia High myopia Decreased fetal movement Developmental regression Soft skin Splenic rupture Wrist drop Short nose Abnormality of the skeletal system High palate Micrognathia Hearing impairment Progressive congenital scoliosis Spontaneous rupture of the globe Dysarthria Decreased pulmonary function Moderate myopia Premature rupture of membranes Atypical scarring of skin Palmoplantar cutis laxa Hypertonia Dural ectasia Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Behavioral abnormality Generalized joint laxity Anxiety Abnormal gastrointestinal motility
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