Edema, and Abnormality of the metaphysis

Diseases related with Edema and Abnormality of the metaphysis

In the following list you will find some of the most common rare diseases related to Edema and Abnormality of the metaphysis 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

Low match OSTEOSARCOMA

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

OSTEOSARCOMA Is also known as osteogenic sarcoma

Related symptoms:

  • Pain
  • Fever
  • Weight loss
  • Abnormality of the metaphysis
  • Osteolysis


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSARCOMA

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Other less relevant matches:

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

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 MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Low match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Abnormality of the metaphysis

Symptoms // Phenotype % cases
Severe short stature Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Corneal dystrophy Uncommon - Between 30% and 50% cases
Disproportionate short-limb short stature Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Abnormality of the metaphysis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Failure to thrive Papule Inflammatory abnormality of the skin Increased susceptibility to fractures Metaphyseal irregularity Synovitis Leukocytosis Metaphyseal widening Hepatomegaly Abnormal form of the vertebral bodies Pneumonia Arthralgia Skeletal dysplasia Splenomegaly Weight loss Flexion contracture Pain Reduced visual acuity Joint swelling Microcephaly Pulmonary insufficiency Dumbbell-shaped long bone Nonimmune hydrops fetalis Severe hydrops fetalis Advanced ossification of carpal bones Multiple prenatal fractures Lens luxation Abnormality of pelvic girdle bone morphology Anterior rib cupping Broad long bones Hypoplastic vertebral bodies Abnormality of calvarial morphology Vertebral hypoplasia Tibial bowing Large fontanelles Wormian bones Recurrent fractures Cataract Respiratory insufficiency Congestive heart failure Abnormality of the dentition Increased fibular diameter Beaded ribs Advanced tarsal ossification Unossified vertebral bodies Premature birth Convex nasal ridge Coarctation of aorta Blue sclerae Thin skin Bowing of the long bones Snail-like ilia Small for gestational age Alopecia Crumpled long bones Recurrent viral infections Scaling skin Erythroderma Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Thyroiditis Hashimoto thyroiditis Severe combined immunodeficiency Hypoproteinemia Hypoplasia of the thymus Shock Cellular immunodeficiency Metaphyseal chondrodysplasia B lymphocytopenia Recurrent fungal infections Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Eosinophilia Recurrent bacterial infections Absent ossification of calvaria Skin rash Anemia Diarrhea Immunodeficiency Thrombocytopenia Diaphyseal thickening Hypothyroidism Hepatosplenomegaly Autoimmunity Pruritus Increased body weight Hypotrichosis Dry skin Lymphadenopathy Sepsis Lymphoma Nephrotic syndrome Thickened skin Chronic diarrhea Short toe Lateral clavicle hook Micromelia Hypoplastic ilia Spondyloepiphyseal dysplasia Waddling gait Interphalangeal joint contracture of finger Osteoarthritis Coxa vara Short long bone Genu varum Rheumatoid arthritis Arthropathy Camptodactyly of finger Juvenile rheumatoid arthritis Abnormality of the knee Flattened epiphysis Methylmalonic acidemia Enlarged epiphyses Sclerotic vertebral endplates Decreased cervical spine mobility Abnormality of the foot Joint stiffness Enlargement of the proximal femoral epiphysis Visual impairment Osteolysis Elevated alkaline phosphatase Pathologic fracture Abnormal lactate dehydrogenase activity Increased lactate dehydrogenase activity Abnormality of the femoral metaphysis Abnormality of the tibial metaphysis Short stature Camptodactyly Scoliosis Muscle weakness Gait disturbance Kyphosis Osteoporosis Kyphoscoliosis Difficulty walking Arthritis Enlarged interphalangeal joints Morbus Scheuermann Ovoid vertebral bodies Lymphedema Macrocephaly Short neck Malar flattening Midface retrusion Polyhydramnios Dolichocephaly Narrow chest Short ribs Cryptorchidism Spontaneous abortion Abnormality of the fingernails Accelerated skeletal maturation Hypoplastic toenails Fibular hypoplasia Hypoplastic scapulae Flat acetabular roof Brachydactyly Cleft palate Enlarged metacarpophalangeal joints Cachexia Headache Myalgia Proteinuria Cough Malabsorption Bone pain Increased bone mineral density Acne Abnormal inflammatory response Glomerulopathy Pustule Pulmonary infiltrates Microscopic hematuria Hypochromic microcytic anemia Congenital hypoplastic anemia Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Severe B lymphocytopenia


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