Arthritis, and Glaucoma

Diseases related with Arthritis and Glaucoma

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


Top matches:

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

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 NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

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Other less relevant matches:

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 BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

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 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

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

Low match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Glaucoma

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Malar flattening Retinal detachment Micrognathia Midface retrusion Platyspondyly Flat face Skeletal dysplasia Scoliosis Hypertelorism Short neck Flexion contracture Hypertension Vitreoretinopathy Abnormality of epiphysis morphology Coxa vara Short thorax Spondyloepiphyseal dysplasia High myopia Arthralgia Vasculitis Generalized hypotonia Sensorineural hearing impairment Depressed nasal bridge Long philtrum Fever Hip dislocation Short nose Micromelia Nystagmus Hyperlordosis Kyphosis Talipes equinovarus Abnormality of the skeletal system Muscle weakness

Rare Symptoms - Less than 30% cases


Pain Progressive sensorineural hearing impairment Restrictive ventilatory defect Macrocephaly Flexion contracture of toe Uveitis Rheumatoid arthritis Camptodactyly of finger Skin rash Gait disturbance Autoimmunity Camptodactyly Abnormality of the dentition Visual impairment Failure to thrive Abnormal vitreous humor morphology Pierre-Robin sequence Ptosis Inguinal hernia Respiratory distress Hypoplastic ilia Genu valgum Wide nasal bridge Epicanthus High palate Strabismus Intellectual disability Lens luxation Limitation of joint mobility Edema Ectopia lentis Rhizomelia Abnormality of the metaphysis Recurrent otitis media Proptosis Severe short stature Arthropathy Depressivity Glossoptosis Hip contracture Joint stiffness Joint swelling Joint dislocation Bifid uvula Broad forehead Pectus carinatum Nephropathy Retinopathy Nephrotic syndrome Exostoses Anteverted nares Inflammatory abnormality of the skin Narrow chest Whistling appearance Shoulder flexion contracture Mitral valve prolapse Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Overbite Dimple chin Chin with H-shaped crease Polydactyly Growth delay Muscular hypotonia Congestive heart failure Hernia Trismus Apnea Respiratory tract infection Paresthesia Retinal degeneration Pulmonary hypoplasia Waddling gait Limb undergrowth Lumbar hyperlordosis Breech presentation Rocker bottom foot Malignant hyperthermia Abnormality of the skin Mandibular prognathia Kyphoscoliosis Deeply set eye Telecanthus Postnatal growth retardation Blepharophimosis Small for gestational age Arthrogryposis multiplex congenita Talipes Dental malocclusion Underdeveloped nasal alae Intellectual disability, profound Distal arthrogryposis Joint contracture of the hand Knee flexion contracture Spina bifida occulta Adducted thumb Nasal speech Pterygium Congenital contracture Hypoplasia of the brainstem Abnormal form of the vertebral bodies Mask-like facies Atrophy/Degeneration affecting the brainstem Abnormal lung morphology Genu varum Sleep apnea Hypoplasia of the zygomatic bone Cerebral calcification Thick lower lip vermilion Sparse scalp hair Amblyopia Hypohidrosis Sparse and thin eyebrow Coxa valga Sparse eyelashes Sparse eyebrow Thickened calvaria Aplasia cutis congenita Radial bowing Thick upper lip vermilion Esotropia Concave nasal ridge Anhidrotic ectodermal dysplasia Ulnar bowing Absent frontal sinuses Hypoplastic frontal sinuses Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Irregular proximal tibial epiphyses Irregular distal femoral epiphysis Wide tufts of distal phalanges Small proximal tibial epiphyses Meningeal calcification Otitis media Ectodermal dysplasia Growth abnormality Limited hip movement Prominent forehead Back pain Bowing of the legs Vestibular dysfunction Disproportionate short stature Hypoplasia of the odontoid process Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Cervical myelopathy Retinoschisis Hypoplasia of the maxilla Delayed pubic bone ossification Sciatica Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification Low-set ears Frontal bossing Hyperhidrosis Brachycephaly Sparse hair Hypotrichosis Congenital cataract Narrow mouth Cryptorchidism Hypertonia Anemia Granulomatosis Band keratopathy Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Hepatomegaly Abducens palsy Optic atrophy Thickening of the lateral border of the scapula Splenomegaly Abnormality of metabolism/homeostasis Pes cavus Abdominal pain Myalgia Delayed puberty Ichthyosis Abnormality of the genital system Conjunctivitis Calcification of the aorta Cystoid macular edema Abnormal palate morphology Eczema Long fingers Joint hypermobility Arachnodactyly Abnormal metacarpal morphology Dry skin Peripheral neuropathy Pectus excavatum Blindness Mitral regurgitation Aortic valve stenosis Papule Subcutaneous nodule Synovitis Skin ulcer Hypercalcemia Atopic dermatitis Increased antibody level in blood Abnormality of the ear Abnormal joint morphology Optic neuropathy Pulmonary edema Abnormal cranial nerve morphology Macular edema Juvenile rheumatoid arthritis Cranial nerve paralysis Urticaria Cerebellar atrophy Rhegmatogenous retinal detachment Chorioretinal atrophy Tracheomalacia Bell-shaped thorax Delayed epiphyseal ossification Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Enlarged joints Coronal cleft vertebrae Enlarged thorax Hematuria Dumbbell-shaped long bone Neonatal respiratory distress Lumbar kyphoscoliosis Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Joint hyperflexibility Seizures Microcephaly Hyperkeratosis Proteinuria Renal insufficiency Myopathy Flared metaphysis Abnormality of the fingernails Abnormality of the voice Motor delay Iliac horns Elevated erythrocyte sedimentation rate Aplastic/hypoplastic toenail Broad foot Abnormality of the nose Recurrent aphthous stomatitis Episcleritis Hernia of the abdominal wall Renal amyloidosis Aplasia/Hypoplasia of the patella Concave nail Ridged nail Cubitus valgus Abnormality of the upper limb Abnormality of the lower limb Abnormal toenail morphology Abnormality of the elbow Patellar dislocation Retrognathia Umbilical hernia Conductive hearing impairment Round face Abnormal facial shape Glomerulopathy Hypoplastic toenails Small distal femoral epiphysis



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