Arthritis, and Hypospadias

Diseases related with Arthritis and Hypospadias

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


Top matches:

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

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Other less relevant matches:

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 syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Low 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

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low 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

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Hypospadias

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Atrial septal defect Seizures Joint hyperflexibility Abnormal facial shape Micrognathia Abnormality of cardiovascular system morphology Abnormality of the dentition Hearing impairment Hypertelorism Cryptorchidism Umbilical hernia Inguinal hernia Intrauterine growth retardation Abnormality of the skeletal system Delayed speech and language development Malar flattening Obesity Hypertension Clinodactyly of the 5th finger Hyperactivity Asthma Brachydactyly Short neck Underdeveloped nasal alae Epicanthus Dilatation Microcephaly Blue sclerae Microdontia Purpura Telecanthus Cognitive impairment Pain Joint dislocation Anemia Cataract Scoliosis Thin vermilion border Posteriorly rotated ears Patent ductus arteriosus Anxiety Talipes equinovarus High palate Ptosis Conductive hearing impairment Cleft palate Abnormality of the liver Bulbous nose Mandibular prognathia Nasal speech

Rare Symptoms - Less than 30% cases


Narrow nose Depressivity Thrombocytopenia Dilatation of the cerebral artery Bicuspid aortic valve Immunodeficiency Dermal translucency Ascending tubular aorta aneurysm Behavioral abnormality Myopathic facies Aortic aneurysm Arnold-Chiari malformation Arthralgia Ventricular septal defect Finger clinodactyly Anal atresia Hypoplasia of penis Mitral valve prolapse Bifid uvula Abdominal pain Hirsutism Arachnodactyly Muscular hypotonia Craniosynostosis Joint laxity Retrognathia Kyphoscoliosis Proptosis Hepatic steatosis Autoimmunity Pulmonary artery aneurysm Multiple suture craniosynostosis Hypocalcemia Acne Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Meningocele Cholelithiasis Prematurely aged appearance Truncus arteriosus Schizophrenia Abnormality of the endocrine system Sprengel anomaly Abnormality of the hand Seborrheic dermatitis Spina bifida Hernia Carious teeth Platybasia Diabetes mellitus Deeply set eye Low posterior hairline Narrow mouth Glaucoma Impaired T cell function Tetralogy of Fallot Elevated hepatic transaminase Varicose veins Amenorrhea Specific learning disability Vesicoureteral reflux Clinodactyly Bruising susceptibility Renal agenesis Increased serum ferritin Eczema Unilateral renal agenesis Glucose intolerance Renal hypoplasia Small hand Joint stiffness Skeletal dysplasia Autism Prominent nasal bridge Short philtrum Intellectual disability, mild Proportionate short stature Impotence Low-set ears Abnormal heart morphology Feeding difficulties in infancy Growth delay Delayed skeletal maturation Constipation Upslanted palpebral fissure Gastroesophageal reflux Aggressive behavior Epididymal cyst Cirrhosis Fatigue Cardiomyopathy Wide nasal bridge Hypoplasia of the maxilla Abnormality of the skull Rhinitis Renal dysplasia Downslanted palpebral fissures High pitched voice Multicystic kidney dysplasia Cone-shaped epiphyses of the phalanges of the hand Rheumatoid arthritis Strabismus Absent speech Holoprosencephaly Abnormality of the ear Generalized hypotonia Open mouth Mesocardia Enlarged joints Hallucinations Generalized cerebral atrophy/hypoplasia Speech apraxia Narrow palpebral fissure Celiac disease Abnormal soft palate morphology Tethered cord Cerebellar atrophy Clubbing Abnormality of the fingernails Villous atrophy Curved fingers Broad columella Broad fingertip Dysdiadochokinesis Hyperextensibility of the finger joints Psoriasiform dermatitis Preauricular pit Impulsivity Apathy Obsessive-compulsive behavior Lipoma Hypoplasia of the brainstem Inflammation of the large intestine 11 pairs of ribs Varicocele Hypoplasia of the corpus callosum Hemolytic anemia Short columella Trigonocephaly Persistent left superior vena cava Dementia Mental deterioration Abnormality of the pinna Blepharophimosis Short upper lip Short clavicles Abnormality of the clavicle Congenital cataract Pulmonic stenosis Fever Dysmetria Chorea Primary amenorrhea Recurrent infections Expressive language delay Pseudoarthrosis Language impairment Short attention span Enuresis Abnormality of the voice Congenital pseudoarthrosis of the clavicle Peripheral demyelination Spinal dysraphism Psychosis Intellectual disability, severe Enlarged naris Stiff neck Congenital posterior urethral valve Right aortic arch with mirror image branching Basal ganglia calcification Abnormal thrombocyte morphology Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Hypoplasia of the thymus Neutropenia Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Abnormal eyelid morphology Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Occipital myelomeningocele Hyperpigmentation of the skin Dysphasia Hypoglycemia Aplasia/Hypoplasia involving the nose Abnormality of the elbow Underdeveloped supraorbital ridges Truncal obesity Reduced number of teeth Hypercholesterolemia Short toe Hypohidrosis Depressed nasal ridge Delayed eruption of teeth Delayed puberty High forehead Lymphopenia Severe short stature Motor delay Congenital hepatic fibrosis Joint swelling Generalized hyperpigmentation Hepatic fibrosis Limitation of joint mobility Scarring Arrhythmia Respiratory distress Increased serum iron Hypogonadotrophic hypogonadism Bowel incontinence Chronic otitis media Autoimmune hemolytic anemia Graves disease Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Right aortic arch Mood swings Perimembranous ventricular septal defect Interrupted aortic arch Aplasia of the uterus Arteria lusoria Juvenile rheumatoid arthritis Pulmonary artery atresia Echolalia Myelomeningocele Pierre-Robin sequence Delusions Hearing abnormality Vitiligo Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Aplasia of the thymus Central nervous system degeneration Overfolded helix Attention deficit hyperactivity disorder Abnormality of the thorax Hand polydactyly Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Choanal atresia Gastrointestinal hemorrhage Intestinal malrotation Long face Myalgia Vascular ring Polyhydramnios Microphthalmia Long philtrum Splenomegaly Optic atrophy Failure to thrive Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Generalized hirsutism Congenital conductive hearing impairment Perineal fistula Nephrocalcinosis Uterine prolapse Short thumb Broad forehead Atrophic scars Disproportionate tall stature Hallux valgus Ectopia lentis Microretrognathia Joint contracture of the hand Exotropia Mitral regurgitation Postaxial hand polydactyly Facial asymmetry Dolichocephaly Pectus carinatum Aortic root aneurysm Camptodactyly Pes planus Frontal bossing Myopia Chronic rhinitis Red hair Fair hair Blue irides Spinal canal stenosis Congenital hypothyroidism Mild short stature Abnormality of the sternum Scaphocephaly Short metatarsal Generalized arterial tortuosity Abnormality of skin pigmentation Vertigo Hip dislocation Protruding ear Alopecia Pectus excavatum Respiratory insufficiency Macrocephaly Flexion contracture Biconvex vertebral bodies Bicuspid pulmonary valve Descending thoracic aorta aneurysm Soft skin Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Long toe Sagittal craniosynostosis Spondylolisthesis High anterior hairline Cone-shaped epiphysis Increased intracranial pressure Flat face Paraparesis Exocrine pancreatic insufficiency Renal cell carcinoma Acute kidney injury Hyperuricemia Glomerulopathy Glycosuria Hypoplasia of the uterus Polydipsia Pyloric stenosis Chronic kidney disease Spastic paraparesis Horseshoe kidney Elevated serum creatinine Nephrolithiasis Renal cyst Nephropathy Stage 5 chronic kidney disease Infertility Abnormality of the kidney Proteinuria Jaundice Cerebral cortical atrophy Renal insufficiency Ataxia Gout Bicornuate uterus Accelerated skeletal maturation Abnormality of exocrine pancreas physiology Type I diabetes mellitus Short phalanx of finger Short metacarpal Round face Midface retrusion Short nose Anteverted nares Depressed nasal bridge Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Maturity-onset diabetes of the young Decreased numbers of nephrons Papillary cystadenoma of the epididymis Absent vas deferens Multiple glomerular cysts Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Joint hypermobility High, narrow palate Long eyelashes Foot acroosteolysis Dysarthria Hyperreflexia Neoplasm Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine rupture Arterial rupture Spontaneous pneumothorax Vomiting Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Internal hemorrhage Gait disturbance Headache Abnormality of the gingiva Downturned corners of mouth Broad thumb Recurrent otitis media Short palpebral fissure Interphalangeal joint contracture of finger Apraxia Coarctation of aorta Otitis media Dental malocclusion Prominent nose Broad nasal tip Triangular face Smooth philtrum Babinski sign Poor speech Malabsorption Hypermetropia Small for gestational age Neurological speech impairment Camptodactyly of finger Wide mouth Postnatal growth retardation Intellectual disability, moderate Hydronephrosis Thin upper lip vermilion Colonic diverticula Abnormal oral frenulum morphology Abnormal bleeding Abnormal intestine morphology Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Macule Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Redundant skin Hypokalemia Abnormality of the urinary system Tinnitus Sleep apnea Osteolysis Abnormal joint morphology Short chin Congenital hip dislocation Cardiac arrest Gingival overgrowth Telangiectasia Subcutaneous nodule Abnormality of the face Thin skin Abnormality of the skin Migraine Premature birth Fragile skin Scleroderma Gastrointestinal infarctions Reduced consciousness/confusion Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Pneumothorax Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Osteolytic defects of the phalanges of the hand Keratoconus Hematochezia Abnormally large globe Periodontitis Aortic dissection Gingivitis Transient ischemic attack Abnormal eyelash morphology Subarachnoid hemorrhage Alopecia of scalp Premature loss of teeth Esophageal atresia Hemoptysis Hypoplastic nasal bridge



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