Arthritis, and Gastroesophageal reflux

Diseases related with Arthritis and Gastroesophageal reflux

In the following list you will find some of the most common rare diseases related to Arthritis and Gastroesophageal reflux that can help you solving undiagnosed cases.


Top matches:

Medium match IDIOPATHIC ACHALASIA


Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.

IDIOPATHIC ACHALASIA Is also known as idiopathic achalasia of esophagus|achalasia cardia|primary achalasia

Related symptoms:

  • Pain
  • Dysphagia
  • Vomiting
  • Weight loss
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about IDIOPATHIC ACHALASIA

Medium match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Medium match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

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Other less relevant matches:

Medium match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Medium match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Medium match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Medium match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Top 5 symptoms//phenotypes associated to Arthritis and Gastroesophageal reflux

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Joint hyperflexibility Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Gastroesophageal reflux. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Micrognathia Short stature Inguinal hernia Joint hypermobility Joint laxity Abnormality of the dentition Generalized hypotonia Malabsorption Strabismus Vomiting Osteoarthritis Cryptorchidism Feeding difficulties in infancy Global developmental delay Seizures Abnormality of the skeletal system Long face Myalgia Dysphagia Flexion contracture Hypertension Deeply set eye Cataract Carious teeth Malar flattening Conductive hearing impairment Abnormality of cardiovascular system morphology Glaucoma Arthralgia Skin ulcer Chronic otitis media Respiratory insufficiency Xerostomia Hip dislocation Upslanted palpebral fissure Keratoconjunctivitis sicca Apnea Muscle weakness Depressivity Kyphosis Dilatation Hyperlordosis Pes planus Anxiety Hearing impairment Growth delay Weight loss

Rare Symptoms - Less than 30% cases


Aortic root aneurysm Atypical scarring of skin Atelectasis Striae distensae Bowel incontinence Back pain Sleep apnea Multiple renal cysts Clonus Patellar dislocation Gingivitis Abnormal lung morphology Delayed speech and language development Abnormality of the metaphysis Ascending tubular aorta aneurysm Anorectal anomaly Recurrent otitis media Anemia Overgrowth Otitis media Obesity Hydrocephalus Ventriculomegaly Frontal bossing Brachydactyly Neoplasm Hyperreflexia Obstructive sleep apnea Motor delay Arachnodactyly Dysphasia Hypospadias Abnormal facial shape Low-set ears Cognitive impairment Wide nasal bridge Intrauterine growth retardation Short neck Atrial septal defect Intellectual disability, mild Prominent nasal bridge Bulbous nose Short philtrum Camptodactyly of finger Joint stiffness Hypothyroidism Mandibular prognathia Thin upper lip vermilion Aggressive behavior Telecanthus Microcephaly Nephrocalcinosis Abnormality of dental enamel Clinodactyly Hypopnea Attention deficit hyperactivity disorder Thrombocytopenia High palate Microphthalmia Downslanted palpebral fissures Long philtrum Behavioral abnormality Kyphoscoliosis Nasal speech Failure to thrive Mitral valve prolapse Dental malocclusion Dental crowding Amblyopia Narrow palate Open bite Meningocele Abnormality of the voice Subcutaneous nodule Intellectual disability, moderate Microdontia Gastrointestinal hemorrhage Nausea and vomiting Hyperextensible skin Joint dislocation Ptosis Epicanthus Arrhythmia Wormian bones Soft skin Renal insufficiency Recurrent fractures Hyperextensibility of the finger joints Autoimmunity Osteoporosis Hernia Telangiectasia Talipes equinovarus Depressed nasal bridge Hypertensive crisis Chest pain Asthma Splenomegaly Scleroderma Telangiectasia of the skin Sleep disturbance Congestive heart failure Osteolysis Fatigue Speech apraxia Stiff neck Spinal dysraphism Short upper lip Tethered cord Enlarged joints Broad columella Enuresis 11 pairs of ribs Villous atrophy Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Renal Fanconi syndrome Lipoma Sprengel anomaly Short clavicles Expressive language delay Broad fingertip Varicocele Mesocardia Buphthalmos Abnormal pupil morphology Ventricular septal defect Optic atrophy Cleft palate Lacrimation abnormality Muscular hypotonia Abnormality of the renal tubule Hypertelorism Generalized cerebral atrophy/hypoplasia Keloids Cheilitis Abnormal soft palate morphology Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Urogenital fistula Trigonocephaly Proportionate short stature Elevated amniotic fluid alpha-fetoprotein Oligosacchariduria Thin vermilion border Smooth philtrum Poor speech Chorioretinal dysplasia Abnormality of calcium-phosphate metabolism Elevated serum acid phosphatase Benign neoplasm of the central nervous system Hypermetropia Periventricular cysts Small for gestational age Neurological speech impairment Downturned corners of mouth Finger swelling Odontogenic neoplasm Craniosynostosis Wide mouth Elevated maternal serum alpha-fetoprotein Bicarbonaturia Abnormality of dentin Lentiglobus Wrist swelling Postnatal growth retardation Hypoammonemia Hirsutism Small hand Celiac disease Generalized hirsutism High pitched voice Preauricular pit Impulsivity Clubbing Language impairment Proximal renal tubular acidosis Immunodeficiency Vitamin D deficiency Abnormality of the hand Abnormality of the fingernails Finger clinodactyly Short thumb Hypoplasia of the maxilla Long eyelashes Broad thumb Short palpebral fissure Low posterior hairline Interphalangeal joint contracture of finger Apraxia Coarctation of aorta Hypoplasia of penis Underdeveloped nasal alae Prominent nose Broad nasal tip Triangular face Hyperphosphaturia Periodontitis Generalized hypopigmentation Visual impairment Reduced visual acuity Neoplasm of the skin Hypercholesterolemia Reduced number of teeth Deep philtrum Hypercalciuria Recurrent respiratory infections Hypokalemia Hyporeflexia Areflexia Blindness Rickets Feeding difficulties Aminoaciduria Nystagmus Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Glomerulonephritis Self-injurious behavior Retinal arteriolar tortuosity Hyponatremia Impaired T cell function Obsessive-compulsive behavior Azoospermia Joint contracture of the hand Flat occiput Delayed puberty Increased serum lactate Dehydration Full cheeks Abnormal bleeding Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Hematuria Abnormality of the ribs Fine hair Genu valgum Sparse scalp hair Congenital cataract Abnormality of epiphysis morphology Platyspondyly Corneal opacity Open mouth Protruding ear Irritability Hypoplasia of dental enamel Low-set, posteriorly rotated ears Proteinuria Neonatal hypotonia EEG abnormality Acidosis Nephrolithiasis Stereotypy Arrhinencephaly Diabetes insipidus Renal tubular dysfunction Renal hypoplasia Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Laryngomalacia Schizophrenia Hypopigmented skin patches Purpura Hypocalcemia Spina bifida Aganglionic megacolon Choanal atresia Tetralogy of Fallot Acne Joint swelling Specific learning disability Intestinal malrotation Vesicoureteral reflux Anal atresia Hyperaldosteronism Polyhydramnios Narrow mouth Autism Patent ductus arteriosus Aciduria Taurodontia Overfolded helix Hyperthyroidism Platybasia Pathologic fracture Small earlobe Abnormality of the pharynx Hypophosphatemia Abnormal aortic valve morphology Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Congenital glaucoma Hyperparathyroidism Foot polydactyly Varicose veins Abnormal eyelid morphology Truncus arteriosus Abnormal joint morphology Abnormality of the skull Glomerulopathy Osteomalacia Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Renal tubular acidosis Abnormal pulmonary valve morphology Reduced subcutaneous adipose tissue Hydronephrosis Abnormality of the wrist Midface retrusion Macrocephaly Genital hernia Cystocele Tendon rupture Premature rupture of membranes Arterial dissection Abnormality of the gingiva Abnormality of the menstrual cycle Venous insufficiency Gastrointestinal dysmotility Aplasia/Hypoplasia of the abdominal wall musculature Acrocyanosis Skeletal dysplasia Keratoconus Decreased fertility Elbow dislocation Decreased nerve conduction velocity Abnormal palate morphology Gingival overgrowth Thin skin Migraine Limitation of joint mobility Abdominal distention Nausea Vertigo Severe short stature Rigidity Abnormality of the foot Short toe Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Acanthosis nigricans Paraparesis Rhizomelia Abnormality of the nervous system Recurrent urinary tract infections Abnormal form of the vertebral bodies Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Lymphoma Oral cleft Confusion Micromelia Leukemia Scarring Cleft lip Paresthesia Generalized abnormality of skin Tibial bowing Atrophic scars Oliguria Osteolytic defects of the phalanges of the hand Pulmonary infiltrates Pulmonary fibrosis Pulmonary arterial hypertension Abnormality of the skin Dyspnea Diarrhea Subcutaneous hemorrhage Excessive wrinkled skin Poor wound healing Fragile skin Hallux valgus Decreased urine output Delayed gross motor development Congenital hip dislocation Blue sclerae Bruising susceptibility Keratoconjunctivitis Achalasia Adrenal insufficiency Oral-pharyngeal dysphagia Rheumatoid arthritis Hoarse voice Aspiration Cough Dyspareunia Narrow foramen obturatorium Calcinosis cutis Elevated erythrocyte sedimentation rate Palmar telangiectasia Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Abnormality of the gastric mucosa Lichenification Biliary cirrhosis Esophageal varix Calcinosis Antinuclear antibody positivity Raynaud phenomenon Irregular hyperpigmentation Steatorrhea Abnormal bowel sounds Elevated alkaline phosphatase Encephalitis Hyperbilirubinemia Cholestasis Ascites Cirrhosis Pruritus Skin rash Abnormality of the liver Elevated hepatic transaminase Jaundice Fever Hepatomegaly Limited elbow extension Myeloid leukemia Hyperactivity Abnormality of the sternum Low back pain Pulmonary edema Spondylolisthesis Aortic dissection Genu recurvatum Thoracic kyphosis Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Dilatation of the cerebral artery Slender finger Restrictive ventilatory defect Pneumothorax Disproportionate tall stature Decreased muscle mass Emphysema Large for gestational age Rocker bottom foot Epiphora Hammertoe Heart murmur Congenital contracture Aortic aneurysm Ectopia lentis Redundant skin Homocystinuria Hypoplasia of the musculature Spontaneous abortion Incisional hernia Posteriorly rotated ears Babinski sign Clinodactyly of the 5th finger Delayed skeletal maturation Abnormal heart morphology Headache Gait disturbance Dysarthria Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Increased axial length of the globe Overbite Anisometropia Overjet Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Premature osteoarthritis Protrusio acetabuli Dural ectasia Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Aortic regurgitation Elbow flexion contracture Disproportionate short stature Cor pulmonale Iritis Cervical cord compression Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Abnormality of femur morphology Childhood onset short-limb short stature Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Abnormality of the elbow Spinal canal stenosis Hip contracture Neuroblastoma Small foramen magnum Brain stem compression Narrow face Pectus carinatum Exotropia Tall stature Decreased body weight Mitral regurgitation Cardiomegaly Abnormality of the cardiovascular system Esotropia Polyneuropathy Retinal detachment High, narrow palate Peripheral axonal neuropathy Dolichocephaly Stroke Limited hip extension Camptodactyly Retrognathia Pes cavus Visual loss Pectus excavatum Myopathy Edema Myopia Peripheral neuropathy Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Dense posterior cortical cataract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Low-set, posteriorly rotated ears, related diseases and genetic alterations

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