Arthritis, and Camptodactyly of finger

Diseases related with Arthritis and Camptodactyly of finger

In the following list you will find some of the most common rare diseases related to Arthritis and Camptodactyly of finger 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 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

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

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Other less relevant matches:

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 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 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Low match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

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

Top 5 symptoms//phenotypes associated to Arthritis and Camptodactyly of finger

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

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

Uncommon Symptoms - Between 30% and 50% cases


Skin rash Scoliosis Fever Juvenile rheumatoid arthritis Uveitis Hearing impairment Interphalangeal joint contracture of finger Abnormal form of the vertebral bodies Severe short stature Skeletal dysplasia Kyphosis Kyphoscoliosis Joint stiffness Limb undergrowth Flattened epiphysis Synovitis Abnormal joint morphology Rheumatoid arthritis Arthropathy Elevated erythrocyte sedimentation rate Osteoarthritis Flexion contracture of toe Abnormality of the foot Platyspondyly

Rare Symptoms - Less than 30% cases


Edema Papule Autoimmunity Glaucoma Midface retrusion Failure to thrive Talipes equinovarus Hypoplastic cervical vertebrae Abnormality of epiphysis morphology Anisospondyly Abnormality of cardiovascular system morphology Cataract Hypertension Low-set, posteriorly rotated ears Inflammatory abnormality of the skin Short finger Micrognathia Intellectual disability Abnormality of the ribs Abnormality of the metaphysis Micromelia Osteopenia Joint dislocation Arthrogryposis multiplex congenita Talipes Ventricular hypertrophy Brachydactyly Bowing of the long bones Pulmonic stenosis Enlarged joints Increased antibody level in blood Nephropathy Vasculitis Respiratory insufficiency Pericarditis Depressed nasal bridge Splenomegaly Anemia Sclerotic vertebral endplates Hepatomegaly Macrocephaly Joint swelling Spondyloepiphyseal dysplasia Conjunctivitis Abnormal facial shape Short long bone Coxa vara Waddling gait Abdominal pain Myalgia Gait disturbance Muscle weakness Spinal deformities Elbow dislocation Episcleritis Hypertelorism Cleft palate Chest pain Iridocyclitis Pleuritis Irregular epiphyses Mitral regurgitation Elbow flexion contracture Pes cavus Ulnar deviation of the hand Lethal skeletal dysplasia Spinal cord compression Thoracic dysplasia Overfolded helix Large earlobe Abnormality of the clavicle Hip contracture Symphalangism affecting the phalanges of the hand Cervical kyphosis Proximal placement of thumb Ulnar deviation of finger Ulnar deviation of the wrist Overweight Visceral angiomatosis Neonatal short-limb short stature Abnormal heart morphology Hyperextensible skin Rimmed vacuoles Erythema nodosum Hypochromic anemia Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Basal ganglia calcification Stiff skin Microcytic anemia Hypermelanotic macule Long fingers Glucose intolerance Lipodystrophy Growth abnormality Lymphopenia Bone pain Panniculitis Finger swelling Disproportionate short-limb short stature Full cheeks Abnormality of the metacarpal bones Abnormality of the outer ear Hoarse voice Increased bone mineral density Short phalanx of finger Blue sclerae Cerebral calcification Hip dysplasia Joint hyperflexibility Adipose tissue loss Recurrent respiratory infections Pneumonia Glabellar hemangioma Obesity Intrauterine growth retardation Cryptorchidism Muscular hypotonia Growth delay Hitchhiker thumb Microdontia Laryngotracheal stenosis Mitral stenosis Abnormality of the carpal bones Frontal upsweep of hair Ulnar bowing Hypoplasia of the capital femoral epiphysis Coronal cleft vertebrae Shield chest Small epiphyses Disproportionate short-trunk short stature Short 4th metacarpal Knee dislocation High anterior hairline Barrel-shaped chest Abnormality of the elbow Thoracic kyphosis Irregular vertebral endplates Short humerus Thin ribs Vertebral fusion Decreased hip abduction Multiple joint dislocation Limited elbow extension Diarrhea Episodic abdominal pain Xerostomia Episodic fever Keratoconjunctivitis sicca Blurred vision Nephrolithiasis Asthma Weight loss Fixed elbow flexion Shoulder dislocation Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Intervertebral space narrowing Narrow vertebral interpedicular distance Tibial bowing Short thorax Costal cartilage calcification Pes planus Short distal phalanx of finger Thick eyebrow Genu valgum Hip dislocation Broad forehead Microtia Hyperlordosis Conductive hearing impairment Delayed skeletal maturation Delayed eruption of teeth Pectus excavatum Long philtrum Short neck Ventricular septal defect Motor delay High palate Hypertrophic auricular cartilage Cystic lesions of the pinnae Highly arched eyebrow Short metacarpal Short femoral neck Widely spaced teeth Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Tricuspid regurgitation Heart murmur Cubitus valgus Sparse eyebrow Delayed gross motor development Aortic regurgitation Wide intermamillary distance Spina bifida occulta Bilateral single transverse palmar creases Spina bifida Aortic valve stenosis Sparse and thin eyebrow Rhizomelia Pulmonary arterial hypertension Lumbar hyperlordosis Hypertriglyceridemia Hyperpigmentation of the skin Rough bone trabeculation Thick lower lip vermilion Iritis Renal insufficiency Wide nasal bridge Nongranulomatous uveitis Intermittent generalized erythematous papular rash Tendonitis Panuveitis Large vessel vasculitis Posterior uveitis Polyhydramnios Anterior uveitis Band keratopathy Granulomatosis Abducens palsy Cystoid macular edema Macular edema Abnormal cranial nerve morphology Proptosis Proteinuria Abnormality of the ear EMG abnormality Azotemia Ulnar deviation of the hand or of fingers of the hand Abnormality of the wrist Slender long bone Elevated alkaline phosphatase Cachexia Osteolysis Hypotelorism Telecanthus Limitation of joint mobility Triangular face Hypoplasia of the maxilla Downturned corners of mouth Stage 5 chronic kidney disease Corneal opacity Retinopathy Optic neuropathy Hypercalcemia Ankle swelling Enlarged interphalangeal joints Pleural effusion Mitral valve prolapse Abdominal distention Dyspnea Enlarged metacarpophalangeal joints Morbus Scheuermann Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Pericardial effusion Enlarged epiphyses Methylmalonic acidemia Abnormality of the knee Metaphyseal widening Genu varum Difficulty walking Osteoporosis Cutis marmorata Exertional dyspnea Skin ulcer Pericardial constriction Subcutaneous nodule Eczema Blindness Peripheral neuropathy Visual impairment Generalized morning stiffness Digital flexor tenosynovitis Synovial hypertrophy Wrist flexion contracture Flattened metacarpal heads Flattened metatarsal heads Coxa magna Congenital finger flexion contractures Serositis Constrictive pericarditis Hip pain Hypertensive retinopathy Doll-like facies Cardiomegaly Flared humeral metaphysis Hyperplasia of the femoral trochanters Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Short diaphyses Seizures Flared femoral metaphysis Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Absent primary metaphyseal spongiosa Skeletal muscle atrophy Thoracic kyphoscoliosis Elevated hepatic transaminase Prominent nose Macroglossia Inability to walk Lymphadenopathy Scarring Abnormality of the liver Erythema Hepatosplenomegaly Congestive heart failure Macrotia Hyperhidrosis Babinski sign Arrhythmia Thrombocytopenia Recurrent infections Intellectual disability, mild Long thorax Spondylometaphyseal dysplasia Metacarpal osteolysis Nephrotic syndrome Progressive sensorineural hearing impairment Restrictive ventilatory defect Abnormality of the voice Urticaria Abnormal palate morphology Cranial nerve paralysis Abnormality of the genital system Ichthyosis Abnormality of the nose Delayed puberty Abnormality of metabolism/homeostasis Optic atrophy Osteolysis involving tarsal bones Wrist swelling Carpal osteolysis Metatarsal osteolysis Broad foot Recurrent aphthous stomatitis Flared iliac wings Short ribs Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Multiple joint contractures Akinesia Epiphyseal dysplasia Peripheral axonal neuropathy Hernia of the abdominal wall Confusion Narrow chest High forehead Respiratory failure Prominent forehead Clinodactyly of the 5th finger Hydrocephalus Renal amyloidosis Oral ulcer



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