Arthritis, and Coarse facial features

Diseases related with Arthritis and Coarse facial features

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


Top matches:

Medium match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

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

Medium match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

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Other less relevant matches:

Medium match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

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 ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Top 5 symptoms//phenotypes associated to Arthritis and Coarse facial features

Symptoms // Phenotype % cases
Thickened skin Common - Between 50% and 80% cases
Mandibular prognathia Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Coarse facial features. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Corneal opacity Osteoporosis Pain Umbilical hernia Hepatomegaly Flexion contracture Osteopenia Hyperhidrosis Frontal bossing Gingival overgrowth Acne Gait disturbance Kyphosis Malabsorption Thickened calvaria Growth hormone excess Joint swelling Sensorineural hearing impairment Clubbing of fingers Cataract Splenomegaly Pectus carinatum Intellectual disability Prominent supraorbital ridges Arthropathy Widely spaced teeth Behavioral abnormality Abnormality of the dentition Macroglossia Anxiety Inguinal hernia Osteolysis Depressivity Subcutaneous nodule Delayed skeletal maturation Hypertelorism

Rare Symptoms - Less than 30% cases


Abnormal heart valve morphology Split hand Optic atrophy Thoracolumbar kyphosis Obstructive lung disease Wrist flexion contracture Bulbous nose Hypertrichosis Hirsutism Thick vermilion border Cognitive impairment Kyphoscoliosis Hypothyroidism Chronic otitis media Hearing impairment Diabetes mellitus Vascular skin abnormality Bowel incontinence Prominent forehead Abnormality of the cardiovascular system Mucopolysacchariduria Tall stature Mitral regurgitation Osteoarthritis Thick lower lip vermilion Full cheeks Paresthesia Broad forehead Hypertrophic cardiomyopathy Macrotia Fatigue Hypertension Impotence Vascular tortuosity Retinal vascular tortuosity Dysostosis multiplex Otitis media Aortic regurgitation Hip dysplasia Wide nose Retinal degeneration Macrocephaly Respiratory tract infection Hernia Abnormality of the skeletal system Global developmental delay Short neck Congestive heart failure Intellectual disability, mild Hepatosplenomegaly Urinary incontinence Neurological speech impairment Hoarse voice Joint stiffness Clubbing Aseptic necrosis Limitation of joint mobility Midface retrusion Cerebral palsy Abnormality of the fingernails Bone pain Abnormality of the cerebral white matter Skin rash Small hand Edema Reduced ejection fraction Thick eyebrow Anemia Abnormal cornea morphology Seborrheic dermatitis Abnormal cortical bone morphology Eczematoid dermatitis Impaired temperature sensation Delayed speech and language development Pes planus Recurrent respiratory infections Neoplasm Rheumatoid arthritis Ptosis Generalized osteoporosis Wide nasal bridge Growth delay Seizures Heart murmur Patellar dislocation Tachycardia Hematuria Nephropathy Fasciculations Nausea Impaired smooth pursuit Delusions Stage 5 chronic kidney disease Abdominal distention Increased intracranial pressure Vertigo Hydrocele testis Recurrent bacterial infections Muscle cramps Sudden cardiac death Chest pain Palpitations Open bite Neurodevelopmental delay Femoral bowing Abnormality of the sternum Hypohidrosis Anorexia Flat occiput Left ventricular hypertrophy Abnormal lung morphology Lymphedema Myocardial infarction Severe sensorineural hearing impairment Abnormality of the helix Bradycardia Bronchitis Ventricular hypertrophy Limb dystonia Nephrotic syndrome Mitral valve prolapse Hypotension Syncope Bowing of the legs Atrial fibrillation Pruritus Spondylolisthesis Fever Diarrhea Vomiting Long ear Retinal thinning Cerebral dysmyelination Cardiomyopathy Synostosis of joints Respiratory insufficiency Oligosacchariduria Spondylolysis Increased vertebral height Peripheral neuropathy Abnormality of the gingiva Spinocerebellar tract disease in lower limbs Abnormal autonomic nervous system physiology Increased hepatic glycogen content Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Renal insufficiency Headache Craniofacial hyperostosis Abnormality of the kidney Abnormality of the rib cage Delayed puberty Nausea and vomiting Decreased pulmonary function Papule Synovitis Prominent nasal bridge Abnormal echocardiogram Cough Stroke Developmental regression Abnormality of the nervous system Dilatation Vacuolated lymphocytes Proteinuria Carcinoma Myalgia Cranial hyperostosis Dyspnea Hyperkeratosis Abdominal pain Posteriorly rotated ears Constipation Arrhythmia Flattened moderately deformed vertebrae Bundle branch block Spontaneous abortion Dysesthesia Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Abnormality of the renal tubule Distal renal tubular acidosis Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Decreased glomerular filtration rate Increased blood urea nitrogen Abnormality of the nose Abnormality of the forehead Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of glycosphingolipid metabolism Reduced sperm motility Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Angiokeratoma Restrictive cardiomyopathy Abnormality of femur morphology Exercise intolerance Abnormality of the hand Low anterior hairline Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Personality changes Polydipsia Glomerulosclerosis Hemiplegia Chronic kidney disease Elevated erythrocyte sedimentation rate Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Ventricular tachycardia Hyperlipidemia Purpura Aminoaciduria Coronary artery atherosclerosis Interstitial pulmonary abnormality Chronic fatigue Tubulointerstitial nephritis Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Peripheral arterial stenosis Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Edema of the lower limbs Progressive sensorineural hearing impairment Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Glomerulopathy Telangiectasia of the skin Celiac disease Orthostatic hypotension Narrow palate Abnormality of nasopharyngeal adenoids Spastic gait Ankylosis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Delayed closure of the anterior fontanelle Vertebral compression fractures Antinuclear antibody positivity Ankle contracture Metatarsal osteolysis Hip contracture Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Knee flexion contracture Decreased body weight Interphalangeal joint contracture of finger Hypoplasia of the maxilla Metacarpal osteolysis Carpal osteolysis Proptosis Specific learning disability Carpal bone hypoplasia Constrictive median neuropathy Juvenile rheumatoid arthritis Abnormality of the optic nerve Broad ribs Scleroderma Visual field defect Short long bone Opacification of the corneal stroma Short ribs Cardiomegaly Nevus Thin metacarpal cortices Astigmatism Retinopathy Craniosynostosis Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Delayed eruption of teeth Brachycephaly J-shaped sella turcica Redundant skin Palmoplantar keratoderma Subperiosteal bone formation Periostosis Hip pain Wide cranial sutures Long clavicles Osteolytic defects of the phalanges of the hand Flushing Heart block Disproportionate tall stature Patent foramen ovale Palmoplantar hyperkeratosis Abnormality of epiphysis morphology Wormian bones Large fontanelles Erythema Abnormal heart morphology Patent ductus arteriosus Pectus excavatum High palate Cleft palate Osteolysis involving bones of the upper limbs Osteolysis involving bones of the feet Severe short stature Gastrointestinal hemorrhage Gynecomastia Pes cavus Dyskinesia Brachydactyly Micrognathia Aspartylglucosaminuria Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Large face Beaking of vertebral bodies Macroorchidism Abnormality of the ulna Abnormal vertebral morphology Sleep disturbance Carious teeth Neoplasm of the skin Microtia Short nose Abnormal facial shape Clubbing of toes Cutis gyrata of scalp Abnormality of bone marrow cell morphology Abnormal hair quantity Peptic ulcer Abnormal hair pattern Neoplasm of the lung Osteomyelitis Genu varum Shallow acetabular fossae Hyperopic astigmatism Hallucinations Hyperreflexia Immunodeficiency Malar flattening Cerebellar atrophy Myopathy Intellectual disability, severe Hydrocephalus Ventriculomegaly Talipes equinovarus Skeletal muscle atrophy Myopia Dysarthria Epicanthus Recurrent infections Motor delay Depressed nasal bridge Spasticity Muscular hypotonia Muscle weakness Strabismus Nystagmus Ataxia Generalized hypotonia Ridged cranial sutures Abnormality of the Eustachian tube Cerebral atrophy Areflexia Incisional hernia Dental malocclusion Limb ataxia Amblyopia Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Decreased antibody level in blood Delayed myelination Babinski sign Gliosis Progressive cerebellar ataxia Neurodegeneration Highly arched eyebrow Confusion Dysmetria Genu valgum Abnormality of the foot Hypermetropia Mental deterioration Skeletal dysplasia Gait ataxia Restricted chest movement Recurrent upper and lower respiratory tract infections Irregular carpal bones Growth abnormality Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Large hands Sleep apnea Long penis Acanthosis nigricans Generalized hirsutism Migraine Tapered finger Long face Synophrys Soft tissue swelling of interphalangeal joints Deficiency of N-acetylglucosamine-1-phosphotransferase Subperiosteal bone resorption Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Pheochromocytoma Paraganglioma Tonsillitis Short finger Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Heparan sulfate excretion in urine Thenar muscle atrophy Expressive language delay Flared nostrils Abnormality of the skull Papilledema Protuberant abdomen Rhinitis Multiple joint contractures Hypersomnia Abnormality of the skin Prominent nose Postnatal growth retardation Conductive hearing impairment Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Cornea verticillata



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