Arthritis, and Pes planus

Diseases related with Arthritis and Pes planus

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME TYPE 7B


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 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

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

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Other less relevant matches:

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 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


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 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Top 5 symptoms//phenotypes associated to Arthritis and Pes planus

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Soft skin

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis

Common Symptoms - More than 50% cases


Bruising susceptibility

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Joint laxity Hypertelorism Kyphosis Blue sclerae Hyperextensible skin Dilatation Joint dislocation Micrognathia Kyphoscoliosis Generalized hypotonia Cleft palate Atrophic scars Joint hypermobility Mitral valve prolapse Talipes equinovarus Pectus carinatum Intellectual disability Abnormality of the sternum Flexion contracture Spondylolisthesis Arachnodactyly Gingival overgrowth Abnormal joint morphology Generalized joint laxity Aortic dissection Osteopenia Mitral regurgitation Hip dislocation Abnormal facial shape Joint hyperflexibility Poor wound healing Fragile skin

Rare Symptoms - Less than 30% cases


Hiatus hernia Congenital hip dislocation Periodontitis Subarachnoid hemorrhage Striae distensae Frontal bossing Hypermelanotic macule Osteolysis Tall stature Carious teeth Cigarette-paper scars Arthralgia Abnormality of the dentition Hallux valgus Pain C1-C2 subluxation Spondyloepimetaphyseal dysplasia Delayed epiphyseal ossification Short neck Brachycephaly Aortic root aneurysm Short nose Ectopia lentis Proptosis Muscle weakness Motor delay Generalized osteoporosis Coarse facial features Depressed nasal bridge Protrusio acetabuli High palate Arterial tortuosity Hyperlordosis Muscular hypotonia Aortic aneurysm Aortic regurgitation Midface retrusion Metaphyseal irregularity Atrial septal defect Abnormality of the skeletal system Micromelia Brachydactyly Platyspondyly Genu varum Hyperextensibility of the finger joints Genu valgum Ptosis Short long bone Cutis laxa Retinal detachment Gait disturbance Thoracic scoliosis Myopia Scarring Abnormality of epiphysis morphology Generalized hypertrichosis Thoracolumbar scoliosis Narrow vertebral interpedicular distance Large joint dislocations Wrist flexion contracture Delayed closure of the anterior fontanelle Vertebral compression fractures Antinuclear antibody positivity Camptodactyly of toe Severe generalized osteoporosis Broad metatarsal Widened metacarpal shaft Long proximal phalanx of finger Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Abnormal bone ossification Interphalangeal joint erosions Contractures of the large joints Laryngotracheomalacia Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Finger swelling Ankylosis Abnormality of the thyroid gland Ankle contracture Streaky metaphyseal sclerosis Hirsutism Bulbous nose Corneal opacity Slender metacarpals Narrow femoral neck Hypothyroidism Delayed patellar ossification Delayed eruption of teeth Diabetes mellitus Pes cavus Cataract Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Small hand Posterior scalloping of vertebral bodies Hip contracture Knee flexion contracture Arthropathy Narrow nasal bridge Sclerotic cranial sutures Abnormality of the ear Abnormality of the thorax Metaphyseal widening Thickened skin Hypoplasia of the maxilla Decreased body weight Subcutaneous nodule Split hand Hypertrichosis Abnormality of the patella Interphalangeal joint contracture of finger Laryngeal stenosis Flat capital femoral epiphysis Growth delay Hypoplasia of the capital femoral epiphysis Arterial dissection Bilateral coxa valga Long distal phalanx of finger Hyperextensibility at elbow Cervical spine instability Increased arm span Global developmental delay Broad distal phalanx of finger Low-set ears Macrocephaly Slender distal phalanx of finger Carpal bone hypoplasia Anteverted nares Caudal interpedicular narrowing Intellectual disability, mild Graves disease Nail dysplasia Tracheomalacia Dislocated radial head Flared metaphysis Stridor Epiphyseal dysplasia Upper airway obstruction Broad nasal tip Irregular epiphyses Wide nose Talipes Small epiphyses Skeletal dysplasia Elevated serum creatine phosphokinase Malar flattening Ascending aortic dissection Cleft soft palate Abnormal sacrum morphology Slender proximal phalanx of finger Inspiratory stridor Downslanted palpebral fissures Ventricular septal defect Spinal dysraphism Irregular vertebral endplates Pectus excavatum Hyporeflexia Retrognathia Neonatal hypotonia Abnormal cardiac septum morphology Small for gestational age Dolichocephaly Arthrogryposis multiplex congenita Abnormal calcification of the carpal bones Smooth philtrum Broad face Cerebral hemorrhage Long palpebral fissure Enlarged thorax Celiac disease Reduced subcutaneous adipose tissue Thoracolumbar kyphosis Decreased muscle mass Patent foramen ovale Long face Atrioventricular block Joint contracture of the hand Exotropia Overgrowth Syncope Bifid uvula Subcutaneous spheroids Mandibular prognathia Bowel diverticulosis Hoarse voice Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification Club-shaped proximal femur Metaphyseal dappling Neoplasm Edema Recurrent infections Erythema Autoimmunity Microdontia Fine hair Thin skin Vasculitis Protuberant abdomen Mitral stenosis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Premature loss of primary teeth Chronic pain Gingivitis Dermal atrophy Gingival bleeding Premature loss of teeth Skin vesicle Long nose Agenesis of permanent teeth Urticaria Hypoplasia of the odontoid process Disproportionate short stature Atrophy of alveolar ridges Macrotia Bilateral ptosis Redundant skin Narrow palate Low posterior hairline Webbed neck Papule Cryptorchidism Thin eyebrow Subcutaneous hemorrhage Excessive wrinkled skin Delayed gross motor development Wormian bones Recurrent fractures Gastroesophageal reflux Abnormality of the vasculature Knee dislocation Short thorax Abnormality of the metaphysis Short femoral neck Spondyloepiphyseal dysplasia Abnormality of the urinary system Hemangioma Coxa vara Increased bone mineral density Limb undergrowth Squared iliac bones Flat face Severe short stature Respiratory distress Bursitis Ventral hernia Shoulder dislocation Severe periodontitis Alveolar bone loss around teeth Irregularly spaced teeth Hypertension Sleep disturbance Macroglossia 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 Epicanthus Thick vermilion border Eczematoid dermatitis Arterial rupture Myxomatous mitral valve degeneration Molluscoid pseudotumors Narrow maxilla Premature rupture of membranes Lop ear Rectal prolapse Abnormality of the foot Bladder diverticulum Varicose veins Infantile muscular hypotonia Recurrent urinary tract infections Inflammatory abnormality of the skin Asthma Dyskinesia Malabsorption Headache Left ventricular hypertrophy Low back pain Dilatation of the cerebral artery Slender finger Disproportionate tall stature Back pain Bicuspid aortic valve Atrial fibrillation Thoracic aortic aneurysm Ventricular hypertrophy Dental malocclusion Migraine Pulmonic stenosis Camptodactyly Patent ductus arteriosus Osteochondritis Dissecans Hip osteoarthritis Neurological speech impairment Wide nasal bridge Microtia Joint stiffness Recurrent respiratory infections Delayed skeletal maturation Splenomegaly Behavioral abnormality Hepatomegaly Dural ectasia Delayed speech and language development Seizures Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Abdominal aortic aneurysm Delayed phalangeal epiphyseal ossification



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