Arthritis, and Osteopenia

Diseases related with Arthritis and Osteopenia

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


Top matches:

Medium match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

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 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

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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

Medium 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

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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 MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Medium match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Osteopenia

Symptoms // Phenotype % cases
Osteoporosis Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Scoliosis Neoplasm Growth delay Pes planus Abnormality of epiphysis morphology Thickened skin Coarse facial features Osteoarthritis Micrognathia Short long bone Flexion contracture Kyphosis Arthropathy Hernia Brachydactyly Hypertelorism Intellectual disability Corneal opacity

Rare Symptoms - Less than 30% cases


Hepatic failure Limitation of joint mobility Cleft palate Hyperlordosis Recurrent infections Hepatocellular carcinoma Genu varum Abnormal joint morphology Delayed skeletal maturation Osteolysis involving tarsal bones Alopecia Global developmental delay Hypogonadotrophic hypogonadism Platyspondyly Hepatomegaly Anemia Carpal bone hypoplasia Diabetes mellitus Interphalangeal joint contracture of finger Cardiomegaly Genu valgum Hepatitis Elevated hepatic transaminase Abnormality of the metaphysis Carcinoma Micromelia Limb undergrowth Irregular carpal bones Seizures Neoplasm of the liver Severe short stature Metaphyseal widening Metaphyseal irregularity Ptosis Proptosis Split hand Proteinuria Retinopathy Rheumatoid arthritis Short metacarpal Renal insufficiency Umbilical hernia Elevated alkaline phosphatase Short neck Osteolysis Nephropathy Wide nasal bridge Hypoplasia of the maxilla Abnormal facial shape Pes cavus Inguinal hernia Hypertension Juvenile rheumatoid arthritis Spondyloepiphyseal dysplasia Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Disproportionate short stature Protuberant abdomen Hypoplasia of the odontoid process Delayed epiphyseal ossification Redundant skin Doll-like facies C1-C2 subluxation Delayed puberty Ulnar deviation of the hand Acidosis Diarrhea Metabolic acidosis Hypoglycemia Cognitive impairment Abnormal bleeding Myopathy Hematuria Lactic acidosis Recurrent respiratory infections Shallow acetabular fossae Muscular hypotonia Widened metacarpal shaft Joint stiffness Respiratory tract infection Mandibular prognathia Prominent forehead Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Interphalangeal joint erosions Astigmatism Thin metacarpal cortices Severe generalized osteoporosis Finger swelling Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Craniosynostosis Retinal degeneration Soft tissue swelling of interphalangeal joints Abnormality of the optic nerve Deficiency of N-acetylglucosamine-1-phosphotransferase Subperiosteal bone resorption Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Hyperopic astigmatism Vascular tortuosity J-shaped sella turcica Retinal vascular tortuosity Mucopolysacchariduria Constrictive median neuropathy Broad ribs Wide nose Dysostosis multiplex Scleroderma Visual field defect Aortic regurgitation Opacification of the corneal stroma Short ribs Bone pain Specific learning disability Hip dysplasia Nevus Full cheeks Renal tubular acidosis Epistaxis Limited elbow extension Multiple epiphyseal dysplasia Beaking of vertebral bodies Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Spinal canal stenosis Metaphyseal dysplasia Abnormality of the hip bone Flared metaphysis Intestinal polyposis Bowing of the legs Rickets Scaling skin Epiphyseal dysplasia Hyperinsulinemia Disproportionate short-limb short stature Abnormal vertebral morphology Rhizomelia Type II diabetes mellitus Enlarged joints Decreased serum testosterone level Bilateral sensorineural hearing impairment Cervical cord compression Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Limited hip extension Flared femoral metaphysis Cervical instability Irregular epiphyses Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Myelopathy Decreased serum estradiol Small epiphyses Lumbar hyperlordosis Waddling gait Hypertriglyceridemia Focal segmental glomerulosclerosis Breathing dysregulation Xanthomatosis Gout Enlarged kidney Vertebral compression fractures Hyperuricemia Prolonged bleeding time Decreased muscle mass Portal hypertension Skeletal myopathy Glomerulosclerosis Hypercalciuria Chronic kidney disease Venous thrombosis Atherosclerosis Pancreatitis Hyperlipidemia Nephrocalcinosis Nephrolithiasis Fasting hypoglycemia Enterocolitis Growth hormone deficiency Hepatocellular adenoma Short foot Sensory neuropathy Short distal phalanx of finger Short palm Joint hyperflexibility Joint laxity Skeletal dysplasia Intellectual disability, mild Hypocitraturia Lipemia retinalis Pyelonephritis Distal renal tubular acidosis Chronic pancreatitis Chronic hepatitis Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Generalized osteoporosis Pleural effusion Antinuclear antibody positivity Acne Osteolytic defects of the phalanges of the hand Flushing Heart block Joint swelling Growth hormone excess Thickened calvaria Disproportionate tall stature Clubbing Seborrheic dermatitis Patent foramen ovale Palmoplantar hyperkeratosis Wormian bones Large fontanelles Skin rash Erythema Hyperhidrosis Clubbing of fingers Long clavicles Patent ductus arteriosus Flat face Short thorax Short femoral neck Abnormality of the urinary system Hemangioma Coxa vara Increased bone mineral density Retinal detachment Pectus carinatum Wide cranial sutures Respiratory distress Talipes equinovarus Myopia Subperiosteal bone formation Periostosis Eczematoid dermatitis Hip pain Abnormal heart morphology Pectus excavatum Spondyloepimetaphyseal dysplasia Ectopic kidney Scarring Macrotia Cryptorchidism Thin lower lip vermilion Lacrimal duct stenosis Underdeveloped supraorbital ridges Combined immunodeficiency Cone-shaped epiphysis Papule Short metatarsal Generalized myoclonic seizures Pneumonia Immunodeficiency Ventriculomegaly Optic atrophy Depressed nasal bridge Hip dislocation Bruising susceptibility High palate Thoracic scoliosis Bursitis Ventral hernia Shoulder dislocation Squared iliac bones Knee dislocation Thin eyebrow Abnormality of the vasculature Atrophic scars Webbed neck Hallux valgus Bilateral ptosis Hyperextensible skin Cutis laxa Narrow palate Low posterior hairline Mitral valve prolapse Abnormality of the sternum Anterior rib cupping Ankylosis Abnormal glucose tolerance Cataract Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Alcoholism Brachycephaly Testicular atrophy Restrictive cardiomyopathy Acute hepatic failure Increased reactive oxygen species production Increased serum ferritin Pericarditis Osteomalacia Frontal bossing Hypothyroidism Azoospermia Knee flexion contracture Ankle contracture Hip contracture Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Gingival overgrowth Kyphoscoliosis Decreased body weight Subcutaneous nodule Hypertrichosis Delayed eruption of teeth Small hand Hirsutism Bulbous nose Impotence Insulin resistance Hypoplastic pubic bone Stage 5 chronic kidney disease Abnormality of the wrist Slender long bone Cachexia EMG abnormality Hypotelorism Triangular face Downturned corners of mouth Pulmonic stenosis Azotemia Camptodactyly of finger Telecanthus Polyhydramnios Metaphyseal dappling Club-shaped proximal femur Delayed pubic bone ossification Narrow greater sacrosciatic notches Ulnar deviation of the hand or of fingers of the hand Hypertensive retinopathy Hepatic fibrosis Abnormality of the liver Hyperpigmentation of the skin Telangiectasia Amenorrhea Ascites Hepatic steatosis Cirrhosis Dilated cardiomyopathy Abdominal pain Ankle swelling Hypogonadism Arrhythmia Splenomegaly Congestive heart failure Cardiomyopathy Fatigue Ataxia Wrist swelling Small epiphyses of the phalanges of the hand



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Babinski sign, related diseases and genetic alterations

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