Arthritis, and Inguinal hernia

Diseases related with Arthritis and Inguinal hernia

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

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Other less relevant matches:

Medium 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

Medium match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


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

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Medium 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

Medium 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

Medium match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Inguinal hernia

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Pes planus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Bruising susceptibility Joint dislocation Hypertelorism Hyperextensible skin Atrophic scars Pectus carinatum Abnormality of the skeletal system Abnormality of epiphysis morphology Genu valgum Joint laxity Hip dislocation Micrognathia Pain Dilatation Mitral valve prolapse Flexion contracture Intellectual disability Cleft palate Myopia Kyphosis Severe short stature Retinal detachment Soft skin Osteoporosis Periodontitis Motor delay Short neck Fragile skin Abnormal facial shape Joint hypermobility

Rare Symptoms - Less than 30% cases


Blue sclerae Subarachnoid hemorrhage Aortic aneurysm Poor wound healing Aortic regurgitation Cigarette-paper scars Macroglossia Brachydactyly Gait disturbance Talipes equinovarus Respiratory distress Premature loss of teeth Arthralgia Hyperlordosis Platyspondyly Micromelia Joint stiffness Limb undergrowth Abnormality of the metaphysis Coxa vara Delayed epiphyseal ossification Neoplasm Spondyloepiphyseal dysplasia Short thorax Gingival bleeding Ectopia lentis Hallux valgus Ptosis Striae distensae Mitral regurgitation Abnormal joint morphology Arachnodactyly Malar flattening Carious teeth Generalized joint laxity Hearing impairment Enlarged joints Aortic dissection Macrocephaly Short nose Gingival overgrowth Gingival recession Spondylolisthesis Cutis laxa Edema Abnormality of the dentition Abnormality of the sternum Scarring Osteopenia Hyperextensibility of the knee Membranous ventricular septal aneurysm Depressed nasal bridge Cataract Myxomatous mitral valve degeneration Hyperextensibility at elbow Bowel diverticulosis Irregularly spaced teeth Premature birth following premature rupture of fetal membranes Arterial rupture Midface retrusion Subcutaneous spheroids Aortic root aneurysm Molluscoid pseudotumors Hypertension Sleep disturbance Abnormal vertebral morphology Chronic otitis media Thickened calvaria Abnormality of the ulna Macroorchidism Beaking of vertebral bodies Abnormal cortical bone morphology Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Aspartylglucosaminuria Generalized hypotonia Epicanthus Narrow maxilla Varicose veins Premature rupture of membranes Lop ear Eczematoid dermatitis Rectal prolapse Hyperextensibility of the finger joints Bladder diverticulum Hiatus hernia Kyphoscoliosis Glaucoma Infantile muscular hypotonia Recurrent urinary tract infections Inflammatory abnormality of the skin Asthma Abnormality of the foot Depressivity Coronal cleft vertebrae Proptosis Hypoplasia of the ulna Paresthesia Hirsutism Postaxial polydactyly Short foot Postaxial hand polydactyly Abnormality of the ribs Short phalanx of finger Hydrops fetalis Disproportionate short-limb short stature Recurrent upper respiratory tract infections Hypoplasia of the radius Heart murmur Short middle phalanx of finger Metatarsus adductus Hepatosplenomegaly Prolonged neonatal jaundice Short humerus Fibular hypoplasia Short tibia Dysostosis multiplex Short femur Short 1st metacarpal Constrictive median neuropathy Aplasia/Hypoplasia of the patella Pes valgus Aplasia/Hypoplasia involving the metacarpal bones Short digit Acromesomelia Aplasia/Hypoplasia of metatarsal bones Talipes Jaundice Retrognathia Bell-shaped thorax Skeletal dysplasia Conductive hearing impairment Retinopathy Round face High myopia Recurrent otitis media Rhizomelia Neonatal respiratory distress Flared metaphysis Chorioretinal atrophy Arthropathy Hip contracture Tracheomalacia Glossoptosis Vitreoretinopathy Polydactyly Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Thick vermilion border Enlarged thorax Lens luxation Rhegmatogenous retinal detachment Dumbbell-shaped long bone Lumbar kyphoscoliosis Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Growth delay Dyskinesia Patent ductus arteriosus Malabsorption Protuberant abdomen Shoulder dislocation Ventral hernia Bursitis Flat face Increased bone mineral density Hemangioma Short long bone Genu varum Abnormality of the urinary system Metaphyseal irregularity Short femoral neck Disproportionate short stature Hypoplasia of the odontoid process Knee dislocation Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Recurrent infections Erythema Autoimmunity Joint hyperflexibility Squared iliac bones Thin eyebrow Fine hair Brain atrophy Fever Irritability Lymphoma Nephroblastoma Low-set ears Frontal bossing Obesity Pectus excavatum Clinodactyly Agenesis of corpus callosum Polyhydramnios Finger syndactyly Lymphedema Abnormality of the vasculature Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Cryptorchidism Macrotia Papule Webbed neck Low posterior hairline Narrow palate Redundant skin Bilateral ptosis Thoracic scoliosis Microdontia Thin skin Neurological speech impairment Intervertebral disc degeneration Back pain Disproportionate tall stature Slender finger Dilatation of the cerebral artery Low back pain Osteochondritis Dissecans Thoracic aortic aneurysm Hip osteoarthritis Arterial tortuosity Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Uterine prolapse Left ventricular hypertrophy Knee osteoarthritis Seizures Delayed speech and language development Hepatomegaly Wide nasal bridge Behavioral abnormality Splenomegaly Delayed skeletal maturation Recurrent respiratory infections Mandibular prognathia Coarse facial features Microtia Bicuspid aortic valve Atrial fibrillation Tall stature Premature loss of primary teeth Hoarse voice Vasculitis Osteolysis Dermal atrophy Urticaria Hypermelanotic macule Agenesis of permanent teeth Long nose Skin vesicle Gingivitis Mitral stenosis Chronic pain Palmoplantar cutis laxa Ventricular hypertrophy Premature loss of permanent teeth Intestinal perforation Severe periodontitis Atrophy of alveolar ridges Alveolar bone loss around teeth High palate Atrial septal defect Headache Camptodactyly Pulmonic stenosis Migraine Dental malocclusion Valgus hand deformity



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

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