Arthritis, and Retinal detachment

Diseases related with Arthritis and Retinal detachment

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


Top matches:

Low match SNOWFLAKE VITREORETINAL DEGENERATION


Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

SNOWFLAKE VITREORETINAL DEGENERATION Is also known as snowflake vitreoretinal degeneration

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Arthritis
  • Cleft lip


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SNOWFLAKE VITREORETINAL DEGENERATION

Low match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

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Other less relevant matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Low match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


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

Low match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Top 5 symptoms//phenotypes associated to Arthritis and Retinal detachment

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Myopia Very Common - Between 80% and 100% cases
Cleft palate Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Platyspondyly

Uncommon Symptoms - Between 30% and 50% cases


Short stature Vitreoretinopathy Abnormality of epiphysis morphology Skeletal dysplasia Kyphosis Glaucoma Scoliosis Hyperlordosis Spondyloepiphyseal dysplasia Micromelia Pectus carinatum Coxa vara Midface retrusion Sensorineural hearing impairment Malar flattening Short thorax Hernia Flat face Pierre-Robin sequence Short neck Talipes equinovarus Mitral valve prolapse Hypertelorism Arthropathy Gait disturbance Respiratory distress High myopia Genu valgum Arthralgia Severe short stature Abnormal vitreous humor morphology Abnormality of the metaphysis Inguinal hernia Micrognathia Intellectual disability Glossoptosis

Rare Symptoms - Less than 30% cases


Disproportionate short stature Joint dislocation Pain Hip dislocation Short nose Genu varum Rhizomelia Long philtrum Proptosis Ectopia lentis Delayed pubic bone ossification Motor delay Hypoplasia of the odontoid process Limb undergrowth Pes planus Delayed epiphyseal ossification Umbilical hernia Hypertension Depressed nasal bridge Joint hypermobility Generalized hypotonia Retinopathy Limitation of joint mobility Retinal degeneration Rhegmatogenous retinal detachment Nyctalopia Erosive vitreoretinopathy Anteverted nares Pectus excavatum Chorioretinal atrophy Retrognathia Exostoses Narrow chest Broad forehead Epicanthus Nystagmus Premature osteoarthritis Tracheal stenosis Bell-shaped thorax Hypoplastic ilia Hypoplastic pelvis Neonatal short-trunk short stature Enlarged joints Hip contracture Coronal cleft vertebrae Disproportionate short-trunk short stature Enlarged thorax Tracheomalacia Recurrent otitis media Flared metaphysis Ptosis Bowel diverticulosis Hyperextensibility at elbow Subcutaneous spheroids Hyperextensibility of the knee Premature birth following premature rupture of fetal membranes Membranous ventricular septal aneurysm Flexion contracture Neonatal respiratory distress Macrocephaly Abnormality of the skeletal system Depressivity Conductive hearing impairment Joint stiffness Limitation of knee mobility Round face Sciatica Lumbar kyphoscoliosis Retinoschisis Restrictive ventilatory defect Barrel-shaped chest Progressive sensorineural hearing impairment Pulmonary hypoplasia Waddling gait Lumbar hyperlordosis Abnormal lung morphology Abnormal form of the vertebral bodies Paresthesia Arterial rupture Vestibular dysfunction Sleep apnea Growth abnormality Back pain Bowing of the legs Ovoid vertebral bodies Myelopathy Limited hip movement Growth delay Lens luxation Dumbbell-shaped long bone Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Cervical myelopathy Flattened epiphysis Limited elbow movement Muscle weakness Muscular hypotonia Congestive heart failure Polydactyly Apnea Respiratory tract infection Autoimmunity Irregularly spaced teeth Metaphyseal dappling Myxomatous mitral valve degeneration Increased bone mineral density Arachnodactyly Bifid uvula Long fingers Abnormal metacarpal morphology Brachydactyly Osteopenia Hemangioma Hypoplasia of the maxilla Short long bone Abnormality of the urinary system Metaphyseal irregularity Short femoral neck Abnormality of the sternum Protuberant abdomen Abnormality of vertebral epiphysis morphology Joint hyperflexibility Anterior rib cupping Epiphora Cleft lip Tractional retinal detachment Optically empty vitreous Snowflake vitreoretinal degeneration Visual impairment Blindness Posterior vitreous detachment Visual loss Membranous vitreous appearance Abnormality of the eye Epiphyseal dysplasia Abnormal joint morphology Cleft soft palate Enlarged epiphyses Spondyloepimetaphyseal dysplasia Hypoplastic pubic bone Molluscoid pseudotumors Hyperextensibility of the finger joints Aortic dissection Periodontitis Varicose veins Generalized joint laxity Spondylolisthesis Bladder diverticulum Rectal prolapse Soft skin Poor wound healing Eczematoid dermatitis Lop ear Cigarette-paper scars Premature rupture of membranes Narrow maxilla Hiatus hernia Aortic root aneurysm Narrow greater sacrosciatic notches Bruising susceptibility C1-C2 subluxation Club-shaped proximal femur Dilatation Kyphoscoliosis Joint laxity Abnormality of the foot Asthma Fragile skin Blue sclerae Inflammatory abnormality of the skin Recurrent urinary tract infections Infantile muscular hypotonia Hyperextensible skin Aortic aneurysm Atrophic scars Delayed calcaneal ossification



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