Edema, and Interphalangeal joint contracture of finger

Diseases related with Edema and Interphalangeal joint contracture of finger

In the following list you will find some of the most common rare diseases related to Edema and Interphalangeal joint contracture of finger that can help you solving undiagnosed cases.

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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

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

Other less relevant matches:

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

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

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

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Top 5 symptoms//phenotypes associated to Edema and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Common - Between 50% and 80% cases
Camptodactyly Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Synovitis Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arthritis Cataract Iridocyclitis Flexion contracture of toe Low-set ears Short stature Joint swelling Failure to thrive Hypertension Fever Skin ulcer Short neck Hyperpigmentation of the skin Juvenile rheumatoid arthritis Depressed nasal bridge Pain Arthralgia Severe short stature

Rare Symptoms - Less than 30% cases

Posterior uveitis Peripheral neuropathy Uveitis Abnormality of the pinna Large vessel vasculitis Scoliosis Skeletal dysplasia Short palm Micromelia Dry skin Hearing impairment Osteoporosis Kyphosis Osteopenia Abnormal joint morphology Hypertelorism Glaucoma Erythema nodosum Papule Thoracic hypoplasia Thin ribs Subcutaneous nodule Muscle weakness Macrocephaly Increased antibody level in blood Brachydactyly Abnormal cranial nerve morphology Growth delay Pericarditis Blepharophimosis Anteverted nares Short long bone Arthropathy Cleft palate Abnormality of the foot Downslanted palpebral fissures Platyspondyly Abnormality of the liver Erythema Myopia Respiratory insufficiency Telecanthus Micrognathia Splenomegaly Anemia Long philtrum Dyspnea Rheumatoid arthritis Joint stiffness Hyperhidrosis Elbow flexion contracture Proptosis Narrow mouth Syndactyly Skeletal muscle atrophy Abnormal form of the vertebral bodies Coxa vara Lymphadenopathy Broad long bones Narrow greater sacrosciatic notches Anterior rib cupping Long clavicles Thin clavicles Hypoplastic ischia Seizures Intellectual disability, mild Posterior rib cupping Congestive heart failure Dumbbell-shaped long bone Broad ischia Pear-shaped vertebrae Widely patent coronal suture Posterior vertebral hypoplasia Widely patent sagittal suture Intellectual disability Hepatomegaly Abnormal inflammatory response Patent foramen ovale Abnormal diaphysis morphology Flat face High myopia Clear cell renal cell carcinoma Limb undergrowth Round face Short foot Small hand Narrow chest Abnormality of the metaphysis Pectus carinatum Clinodactyly of the 5th finger Midface retrusion Malar flattening Short nose Frontal bossing Retrobulbar optic neuritis Abnormality of the ribs Omphalocele Metaphyseal cupping Protuberant abdomen Broad ribs Bifid tongue Hypoplastic fingernail Hypoplastic scapulae Hearing abnormality Bell-shaped thorax Megalocornea Fibular hypoplasia Rhizomelia Hypoplastic toenails Abnormal choroid morphology Plagiocephaly Short ribs Joint contracture of the hand Polyarticular arthritis Wide anterior fontanel Hydrops fetalis Elevated erythrocyte sedimentation rate Recurrent infections Short palpebral fissure Generalized amyotrophy Multiple joint contractures Rocker bottom foot Akinesia Congenital contracture Pterygium Abnormality of pelvic girdle bone morphology Coarctation of aorta Cystic hygroma Decreased fetal movement Dandy-Walker malformation Premature birth High, narrow palate Pulmonary hypoplasia Arthrogryposis multiplex congenita Small for gestational age Polyhydramnios Hypokinesia Slender long bone Posteriorly rotated ears Cavum septum pellucidum Absent palmar crease Small placenta Short umbilical cord Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Hydranencephaly Ulnar deviation of the hand Absent septum pellucidum Overlapping fingers Excessive daytime somnolence Depressed nasal tip Fetal akinesia sequence Adrenal hypoplasia Abnormality of abdomen morphology Anencephaly Fatigable weakness Polydactyly Cerebellar hypoplasia Thrombocytopenia Cardiomegaly Lipodystrophy Growth abnormality Conjunctivitis Lymphopenia Bone pain Hypertriglyceridemia Thick lower lip vermilion Prominent nose Long fingers Macroglossia Inability to walk Scarring Elevated hepatic transaminase Hepatosplenomegaly Macrotia Babinski sign Arrhythmia Glucose intolerance Hypermelanotic macule Hydrocephalus Episcleritis Talipes equinovarus Intrauterine growth retardation High palate Ptosis Cryptorchidism Adipose tissue loss Finger swelling Stiff skin Panniculitis Microcytic anemia Hypochromic anemia Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Rimmed vacuoles Basal ganglia calcification Abnormal salivary gland morphology Abnormality of the endocrine system Abnormality of the retinal vasculature Optic neuropathy Anterior uveitis Band keratopathy Granulomatosis Abducens palsy Cystoid macular edema Macular edema Abnormality of the ear Panuveitis Hypercalcemia Vasculitis Inflammatory abnormality of the skin Eczema Autoimmunity Blindness Visual impairment Iritis Tendonitis Digital flexor tenosynovitis Chronic diarrhea Abnormality of dental morphology Urticaria Increased susceptibility to fractures Polycystic ovaries Recurrent bacterial infections Lymphedema Gingival overgrowth Thickened skin Intermittent generalized erythematous papular rash Recurrent fractures Malabsorption Coarse facial features Immunodeficiency Feeding difficulties Muscular hypotonia Nongranulomatous uveitis Generalized morning stiffness Pericardial constriction Telangiectasia of the skin Spondyloepiphyseal dysplasia Enlarged interphalangeal joints Decreased cervical spine mobility Sclerotic vertebral endplates Enlarged epiphyses Methylmalonic acidemia Flattened epiphysis Abnormality of the knee Metaphyseal widening Morbus Scheuermann Genu varum Osteoarthritis Waddling gait Difficulty walking Kyphoscoliosis Gait disturbance Enlargement of the proximal femoral epiphysis Enlarged metacarpophalangeal joints Synovial hypertrophy Hip pain Flattened metacarpal heads Flattened metatarsal heads Coxa magna Congenital finger flexion contractures Serositis Constrictive pericarditis Pleuritis Wrist flexion contracture Abdominal distention Exertional dyspnea Pericardial effusion Cutis marmorata Pleural effusion Mitral regurgitation Mitral valve prolapse Chest pain Steatorrhea Abnormality of the musculature Abnormality of the optic nerve Aplasia/Hypoplasia of the nipples Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Eyelid coloboma Hypoplastic helices Abnormality of the antihelix Short columella Palpebral edema Hypoplastic nipples Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Bilateral renal hypoplasia Bilateral camptodactyly 2-3 toe syndactyly Ichthyosis Xerostomia Keratitis Aortic aneurysm Pulmonary arterial hypertension Limitation of joint mobility Nephropathy Stage 5 chronic kidney disease Retinopathy Underdeveloped tragus Facial palsy Photophobia Visual loss Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Agenesis of permanent teeth Cupped ear Osteomalacia Renal insufficiency Finger syndactyly Microtia Coloboma Sparse hair Protruding ear Abnormality of the kidney Mandibular prognathia Abnormality of the dentition Congenital cataract Epicanthus Abnormal facial shape Generalized hypotonia Global developmental delay Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Nail dystrophy Iris coloboma Abnormality of the thorax Hypohidrosis Abnormality of the urinary system Cutaneous syndactyly Abnormality of the fingernails Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Recurrent urinary tract infections Delayed eruption of teeth Fine hair Renal hypoplasia Hypotelorism Renal agenesis Abnormality of the skin Nail dysplasia Vesicoureteral reflux Intestinal hypoplasia


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