Arthritis, and Blue sclerae

Diseases related with Arthritis and Blue sclerae

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

Top matches:

Medium 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

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 ALKAPTONURIA

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Other less relevant matches:

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium match DIASTROPHIC DWARFISM

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

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

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

Top 5 symptoms//phenotypes associated to Arthritis and Blue sclerae

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Joint dislocation Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Bruising susceptibility Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Joint hypermobility Talipes equinovarus Dilatation Soft skin Hernia Scoliosis Pes planus Mitral valve prolapse Pain Aortic aneurysm Joint hyperflexibility Motor delay Flexion contracture Inguinal hernia Microdontia Kyphoscoliosis Hyperextensible skin Fragile skin Atrophic scars Hypertelorism Joint laxity Umbilical hernia Poor wound healing Intellectual disability Cognitive impairment Hypertension Arthralgia Abnormal joint morphology Arachnodactyly Mitral regurgitation Proptosis Periodontitis Ptosis Cigarette-paper scars Cleft palate Growth delay Spondylolisthesis Aortic dissection Aortic root aneurysm Ectopia lentis Prematurely aged appearance Severe short stature Generalized hypotonia Kyphosis Abnormal facial shape

Rare Symptoms - Less than 30% cases

Depressed nasal ridge Generalized joint laxity Hypohidrosis Gingivitis Subarachnoid hemorrhage Retrognathia High palate Premature loss of teeth Downslanted palpebral fissures Midface retrusion Premature loss of primary teeth Pectus excavatum Short toe Hoarse voice Osteolysis Hypospadias Delayed eruption of teeth Gingival overgrowth Tall stature Hypercholesterolemia Thin skin Reduced number of teeth Carious teeth Congenital hip dislocation Dolichocephaly High pitched voice Recurrent infections Hypoplasia of penis Abnormality of the sternum Muscular hypotonia Ascending tubular aorta aneurysm Hiatus hernia Dilatation of the cerebral artery Brachydactyly Asthma Varicose veins Abnormality of the foot Delayed skeletal maturation Myopia Epicanthus Narrow nose Bladder diverticulum Dermal translucency Short long bone Gingival recession Molluscoid pseudotumors Eczema Pulmonary artery aneurysm Deeply set eye Arterial rupture Pneumonia Obesity Thin vermilion border Intrauterine growth retardation High forehead Hearing impairment Hypoglycemia Truncal obesity Delayed puberty Pectus carinatum Abnormality of the dentition Underdeveloped supraorbital ridges Arterial dissection Abnormal heart valve morphology Abnormality of the elbow Ascending aortic dissection Arterial tortuosity Cryptorchidism Arthrogryposis multiplex congenita Aplasia/Hypoplasia involving the nose Skeletal dysplasia Joint stiffness Hypoplastic nasal bridge Chronic pain Macrocephaly Excessive wrinkled skin Depressed nasal bridge Global developmental delay Neoplasm Hydrocephalus Hip dislocation Bifid uvula Abnormality of cardiovascular system morphology Abnormality of skin pigmentation Exotropia Joint contracture of the hand Hallux valgus Respiratory insufficiency Osteoporosis Hyperextensibility of the finger joints Abnormality of the urinary system Thoracic dysplasia Postaxial hand polydactyly Large earlobe Spinal cord compression Finger clinodactyly Microretrognathia Bicuspid aortic valve Elbow dislocation Arnold-Chiari malformation Myopathic facies Overfolded helix Abnormality of the clavicle Proximal placement of thumb Short finger Overweight Hip contracture Symphalangism affecting the phalanges of the hand Posteriorly rotated ears Irregular epiphyses Hitchhiker thumb Abnormality of the skeletal system Atrial septal defect Frontal bossing Malar flattening Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Clinodactyly Patent ductus arteriosus Clinodactyly of the 5th finger Lethal skeletal dysplasia Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Disproportionate short-limb short stature Ulnar deviation of the hand Camptodactyly Craniosynostosis Broad forehead Facial asymmetry Ulnar deviation of finger Abnormal bleeding Disproportionate tall stature Osteolytic defects of the phalanges of the hand Arterial stenosis Periorbital edema Pneumothorax Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Hematochezia Abnormality of hair texture Abnormally large globe Transient ischemic attack Abnormal eyelash morphology Alopecia of scalp Sprengel anomaly Esophageal atresia Hemoptysis Keratoconus Ocular pain Gastrointestinal infarctions Telangiectasia of the skin Spontaneous pneumothorax Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Foot acroosteolysis Coronary artery aneurysm Abnormal oral frenulum morphology Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Internal hemorrhage Colonic diverticula Abnormality of the gingiva Scleroderma Narrow nasal bridge Rhinitis Multiple suture craniosynostosis Narrow mouth Glaucoma Alopecia Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Cystic medial necrosis Protruding ear Long thorax Dural ectasia Unilateral ptosis Thoracic aortic aneurysm Long toe Sagittal craniosynostosis High anterior hairline Scaphocephaly Telecanthus Vertigo Macule Short chin Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Rheumatoid arthritis Redundant skin Hypokalemia Tinnitus Sleep apnea Abnormal intestine morphology Cardiac arrest Flat face Telangiectasia Subcutaneous nodule Abnormality of the face Abnormality of the skin Migraine Premature birth Abnormality of the outer ear High, narrow palate Abnormality of the metacarpal bones Membranous ventricular septal aneurysm Increased bone mineral density Pigmentation of the sclera Fine hair Autoimmunity Scarring Erythema Edema Ochronosis Tendonitis Cutis laxa Intervertebral disk calcification Thickened Achilles tendon Tendon rupture Coronary artery calcification Prostatitis Cartilage destruction Vasculitis Dermal atrophy Intervertebral disc degeneration Palmoplantar cutis laxa Seizures Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Premature loss of permanent teeth Mitral stenosis Urticaria Gingival bleeding Striae distensae Skin vesicle Long nose Agenesis of permanent teeth Hypermelanotic macule Calcification of cartilage Mitral valve calcification Respiratory distress Delayed gross motor development Nephrolithiasis Myocardial infarction Aciduria Abnormality of the eye Abnormality of metabolism/homeostasis Subcutaneous hemorrhage Wormian bones Aminoaciduria Recurrent fractures Hyperlordosis Gastroesophageal reflux Muscle weakness Abnormality of the endocrine system Abnormality of the skull Abnormality of the nail Atherosclerosis Aortic valve calcification Irregular hyperpigmentation Dark urine Low back pain Abnormality of the nose Hearing abnormality Ankylosis Joint swelling Arthropathy Reduced bone mineral density Hyperparathyroidism Vertebral fusion Abnormality of the ear Back pain Growth abnormality Abnormality of vision Failure to thrive Diarrhea Short phalanx of finger Reduced subcutaneous adipose tissue Bilateral coxa valga Graves disease Cleft soft palate Broad face Long palpebral fissure Celiac disease Decreased muscle mass Increased arm span Cerebral hemorrhage Patent foramen ovale Atrioventricular block Aortic regurgitation Overgrowth Syncope Cervical spine instability Abnormal heart morphology Smooth philtrum Limb undergrowth Abnormality of epiphysis morphology Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Interphalangeal joint contracture of finger Abnormality of the ribs Cerebral calcification Recurrent respiratory infections Hip dysplasia Full cheeks Micromelia Talipes Camptodactyly of finger Low-set, posteriorly rotated ears Long face Small for gestational age Prominent forehead External genital hypoplasia Retinal detachment Lymphoid interstitial pneumonia Delayed menarche Immune dysregulation Concave nasal ridge Proportionate short stature Keratitis Recurrent urinary tract infections Increased body weight Lymphopenia Chronic diarrhea Abnormal lung morphology Progressive visual loss Growth hormone deficiency Inflammatory abnormality of the skin Infantile muscular hypotonia Abnormal cardiac septum morphology Subcutaneous spheroids Neonatal hypotonia Brachycephaly Hyporeflexia Ventricular septal defect Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Hyperextensibility at elbow Rectal prolapse Bowel diverticulosis Irregularly spaced teeth Myxomatous mitral valve degeneration Narrow maxilla Premature rupture of membranes Lop ear Eczematoid dermatitis Hypermobility of distal interphalangeal joints


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