Arthritis, and Camptodactyly

Diseases related with Arthritis and Camptodactyly

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


Top matches:

Low match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Low match YAO SYNDROME; YAOS


Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Low match CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME


Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial|hypertrophic synovitis, congenital familial|pac syndrome|camptodactyly-arthropathy-pericarditis syndrome|arthropathy-camptodactyly syndrome|cacp syndrome|jacobs syndrome|pericarditis-arthropathy-camptodactyly syndrome|cap syn

Related symptoms:

  • Pain
  • Flexion contracture
  • Dyspnea
  • Arthritis
  • Camptodactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

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Other less relevant matches:

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 MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Low 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

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 METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low 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

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

Top 5 symptoms//phenotypes associated to Arthritis and Camptodactyly

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Camptodactyly of finger Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skin rash Uveitis Fever Abnormal joint morphology Juvenile rheumatoid arthritis Interphalangeal joint contracture of finger Rheumatoid arthritis Kyphoscoliosis Pain Pes cavus Flexion contracture of toe Glaucoma Micrognathia Gait disturbance Hypertelorism Synovitis Arthropathy Kyphosis Osteoporosis Cataract Osteoarthritis Hearing impairment

Rare Symptoms - Less than 30% cases


High palate Metatarsal osteolysis Elevated erythrocyte sedimentation rate Pericarditis Protrusio acetabuli Pes planus Wide nasal bridge Failure to thrive Intellectual disability Pleuritis Metacarpal osteolysis Mitral regurgitation Mitral valve prolapse Iridocyclitis Carpal osteolysis Osteolysis Osteolysis involving tarsal bones Hypertension Abnormality of the ear Wrist flexion contracture Vasculitis Cleft palate Inguinal hernia Proptosis Dental malocclusion Papule Inflammatory abnormality of the skin Coxa vara Nephropathy Hypoplasia of the maxilla Ventricular hypertrophy Knee flexion contracture Metaphyseal widening Brachydactyly Abnormal form of the vertebral bodies Ulnar deviation of the hand or of fingers of the hand Abnormality of the foot Platyspondyly Joint stiffness Skeletal dysplasia Severe short stature Muscle weakness Prominent forehead Joint swelling Osteopenia Pulmonic stenosis Arthrogryposis multiplex congenita Corneal opacity Hip contracture Telecanthus Chest pain Subcutaneous nodule Autoimmunity Myalgia Abdominal pain Frontal bossing Diabetes mellitus Small hand Relatively short spine Hirsutism Long coccyx Abnormal metaphyseal vascular invasion Coarse facial features Dumbbell-shaped metaphyses Brachycephaly Halberd-shaped pelvis Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Bulbous nose Hypothyroidism Snail-like ilia Abnormal cortical bone morphology Flared humeral metaphysis Narrow chest Short ribs Abnormality of the metaphysis Abnormality of the ribs Limb undergrowth Peripheral axonal neuropathy Confusion Micromelia Low-set, posteriorly rotated ears Akinesia High forehead Respiratory failure Clinodactyly of the 5th finger Midface retrusion Hydrocephalus Respiratory insufficiency Depressed nasal bridge Renal amyloidosis Epiphyseal dysplasia Multiple joint contractures Short diaphyses Abnormality of the intervertebral disk Hypoplastic cervical vertebrae Flared femoral metaphysis Anisospondyly Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Long thorax Short finger Thoracic kyphoscoliosis Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Delayed eruption of teeth Finger swelling Hypertrichosis Blepharophimosis Abnormality of the skin Underdeveloped nasal alae Flat face Talipes Hip dislocation Small for gestational age Postnatal growth retardation Joint contracture of the hand Deeply set eye Mandibular prognathia Narrow mouth Malar flattening Long philtrum Short nose Hypertonia Intellectual disability, profound Spina bifida occulta Myopathy Malignant hyperthermia Whistling appearance Shoulder flexion contracture Abnormal auditory evoked potentials Overbite Dimple chin Breech presentation Trismus Distal arthrogryposis Adducted thumb Atrophy/Degeneration affecting the brainstem Mask-like facies Rocker bottom foot Hypoplasia of the brainstem Congenital contracture Pterygium Nasal speech Cerebellar atrophy Short neck Split hand Ankylosis Camptodactyly of toe Generalized hypertrichosis Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankle contracture Contractures of the large joints Narrow nasal bridge Abnormality of the thyroid gland Hypermelanotic macule Abnormality of the thorax Gingival overgrowth Thickened skin Decreased body weight Broad metatarsal C1-C2 subluxation Talipes equinovarus Sclerotic cranial sutures Epicanthus Ptosis Cryptorchidism Strabismus Microcephaly Generalized hypotonia Seizures Distal tapering of metatarsals Episcleritis Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Thin metacarpal cortices Severe generalized osteoporosis Hernia of the abdominal wall Disproportionate tall stature Recurrent aphthous stomatitis Visual impairment Hypercalcemia Skin ulcer Eczema Blindness Edema Peripheral neuropathy Generalized morning stiffness Optic neuropathy Digital flexor tenosynovitis Pericardial constriction Synovial hypertrophy Flattened metacarpal heads Flattened metatarsal heads Coxa magna Increased antibody level in blood Abnormal cranial nerve morphology Serositis Large vessel vasculitis Polyhydramnios Renal insufficiency Nongranulomatous uveitis Intermittent generalized erythematous papular rash Tendonitis Panuveitis Iritis Macular edema Posterior uveitis Anterior uveitis Band keratopathy Granulomatosis Abducens palsy Cystoid macular edema Congenital finger flexion contractures Constrictive pericarditis Retinopathy Methylmalonic acidemia Morbus Scheuermann Enlargement of the proximal femoral epiphysis Enlarged interphalangeal joints Decreased cervical spine mobility Sclerotic vertebral endplates Enlarged epiphyses Flattened epiphysis Diarrhea Abnormality of the knee Spondyloepiphyseal dysplasia Genu varum Short long bone Waddling gait Difficulty walking Enlarged metacarpophalangeal joints Weight loss Hip pain Dyspnea Exertional dyspnea Pericardial effusion Cutis marmorata Pleural effusion Elbow flexion contracture Abdominal distention Oral ulcer Asthma Episodic abdominal pain Xerostomia Episodic fever Keratoconjunctivitis sicca Blurred vision Nephrolithiasis Proteinuria Stage 5 chronic kidney disease Abnormality of the nose Hip osteoarthritis Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Abdominal aortic aneurysm Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Hepatomegaly Osteochondritis Dissecans Low back pain Spondylolisthesis Aortic dissection Soft skin Dilatation of the cerebral artery Anemia Optic atrophy Striae distensae Cranial nerve paralysis Broad foot Progressive sensorineural hearing impairment Restrictive ventilatory defect Abnormality of the voice Urticaria Abnormal palate morphology Conjunctivitis Macrocephaly Abnormality of the genital system Nephrotic syndrome Ichthyosis Delayed puberty Abnormality of metabolism/homeostasis Splenomegaly Subarachnoid hemorrhage Slender finger Downturned corners of mouth Slender long bone Doll-like facies Ankle swelling Hypertensive retinopathy Azotemia Ulnar deviation of the hand Abnormality of the wrist Elevated alkaline phosphatase Abnormality of the skeletal system Cachexia EMG abnormality Abnormality of epiphysis morphology Hypotelorism Limitation of joint mobility Triangular face Wrist swelling Atrial septal defect Abnormality of the sternum Migraine Aortic aneurysm Back pain Bicuspid aortic valve Aortic regurgitation Left ventricular hypertrophy Atrial fibrillation Bruising susceptibility Headache Arachnodactyly Joint laxity Umbilical hernia Patent ductus arteriosus Hernia Dilatation Chin with H-shaped crease



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