Arthritis, and Hypertrichosis

Diseases related with Arthritis and Hypertrichosis

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


Top matches:

Low match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Low 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

Low 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

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Other less relevant matches:

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 COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Hypertrichosis

Symptoms // Phenotype % cases
Kyphosis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Rheumatoid arthritis Coarse facial features Kyphoscoliosis Cataract Splenomegaly Recurrent infections Frontal bossing Osteoporosis Hypothyroidism Hypertelorism Intellectual disability Osteopenia Genu valgum Hepatomegaly Thickened skin Gingival overgrowth Anemia Tall stature Macrotia Mandibular prognathia Small hand Fatigue Edema Osteolysis Aseptic necrosis Seizures Sensorineural hearing impairment Hearing impairment

Rare Symptoms - Less than 30% cases


Ataxia Generalized hypotonia Impotence Thrombocytopenia Growth hormone excess Joint swelling Growth delay Pericarditis Nystagmus Strabismus Global developmental delay Retinal degeneration Acne Muscular hypotonia Widely spaced teeth Abnormality of the fingernails Macroglossia Tapered finger Synophrys Broad forehead Anxiety Pectus excavatum Hyperhidrosis Depressivity Abnormality of the dentition Cerebral palsy Cardiomyopathy Cognitive impairment Bowing of the long bones Neurological speech impairment Respiratory tract infection Hernia Midface retrusion Thick eyebrow Highly arched eyebrow Abdominal pain Malar flattening Otitis media Psychosis Behavioral abnormality Malabsorption Inflammatory abnormality of the skin Neoplasm Low anterior hairline Cutis gyrata of scalp Abnormality of the skeletal system Optic atrophy Macrocephaly Skeletal muscle atrophy Leukopenia Myopia Ptosis Motor delay Depressed nasal bridge Short neck Pain Narrow nasal bridge Antinuclear antibody positivity Corneal opacity Abnormality of skin pigmentation Retinopathy Abnormality of the thyroid gland Hypoplasia of the maxilla Gait disturbance Brachydactyly Flexion contracture Full cheeks Micrognathia Pigmentary retinopathy Optic disc pallor Failure to thrive Decreased body weight Telangiectasia Arthropathy Generalized hirsutism Narrow palate Abnormality of retinal pigmentation Pes planus Delayed eruption of teeth Vocal cord paralysis Macular edema Microglossia Gingivitis Facial hypotonia Hiatus hernia Furrowed tongue Bone spicule pigmentation of the retina Peripheral visual field loss Abnormality of the larynx Deep venous thrombosis Aplasia/Hypoplasia of the earlobes Thoracic scoliosis Misalignment of teeth Posterior subcapsular cataract Hepatic steatosis Recurrent aphthous stomatitis Chorioretinal dysplasia Scarring Erythema Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Narrow philtrum Tapetoretinal degeneration Narrow palm Hemeralopia Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Macrodontia Iris atrophy Thick hair Bull's eye maculopathy Celiac disease Subcapsular cataract Single transverse palmar crease Eczematoid dermatitis Abnormality of bone marrow cell morphology Progressive visual loss Convex nasal ridge Aciduria Clubbing of toes Growth hormone deficiency Prominent nose Short metacarpal Microcornea Neutropenia Retinal detachment Mitral valve prolapse High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Joint hypermobility Arachnodactyly Astigmatism Smooth philtrum Joint hyperflexibility Delayed puberty Severe global developmental delay Narrow forehead Decreased fetal movement Weak cry Short metatarsal Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Reduced number of teeth High myopia Laryngomalacia Recurrent skin infections Venous thrombosis Sandal gap Intellectual disability, progressive Preauricular skin tag Progressive microcephaly Exotropia Long eyelashes Clumsiness Open mouth Lumbar hyperlordosis Papule Sparse eyebrow Abnormal hair quantity Alcoholism Gangrene Increased reactive oxygen species production Acute hepatic failure Hashimoto thyroiditis Epiphyseal stippling Neoplasm of the liver Autoimmune thrombocytopenia Restrictive cardiomyopathy Thyroiditis Autoimmune hemolytic anemia Testicular atrophy Increased antibody level in blood Raynaud phenomenon Abnormality of coagulation Glomerulonephritis Nephritis Systemic lupus erythematosus Purpura Vasculitis Cutaneous photosensitivity Memory impairment Abnormality of the skin Hemolytic anemia Skin rash Increased serum ferritin Hepatocellular carcinoma Abnormal glucose tolerance Insulin resistance Cirrhosis Dilated cardiomyopathy Abnormality of the liver Carcinoma Ascites Elevated hepatic transaminase Amenorrhea Hepatitis Cardiomegaly Hyperpigmentation of the skin Hepatic fibrosis Hypogonadotrophic hypogonadism Pleuritis Hypogonadism Azoospermia Pleural effusion Arrhythmia Congestive heart failure Serositis Abnormal joint morphology Osteomalacia Malar rash Complement deficiency Antiphospholipid antibody positivity Autoimmunity Intestinal polyp Peptic ulcer Abnormal eyebrow morphology Nail dystrophy Severe short stature Genu varum Osteomyelitis Diarrhea Vomiting Abnormal perifollicular morphology Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Absent eyelashes Platyspondyly Atopic dermatitis Aplasia/Hypoplasia of the skin Neoplasm of the lung Epiphora Abnormal hair pattern Spinal muscular atrophy Hepatic failure Abnormal cortical bone morphology Seborrheic dermatitis Ichthyosis Hypotrichosis Neoplasm of the skin Nausea and vomiting Peripheral edema Scleroderma Stiff neck Mucopolysacchariduria Protein-losing enteropathy Microvesicular hepatic steatosis Increased serum iron Cholangiocarcinoma Thoracolumbar scoliosis Constrictive pericarditis Small for gestational age Thoracic kyphosis Aceruloplasminemia Elevated transferrin saturation Gynecomastia Palmoplantar keratoderma Malnutrition Limitation of joint mobility Cachexia Abnormal intestine morphology Gastrointestinal hemorrhage Abnormality of epiphysis morphology Chronic diarrhea Postural instability Bone pain Nausea Finger syndactyly Synostosis of joints Prominent nasal bridge Palpebral edema Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Spinal canal stenosis Galactorrhea Generalized hyperpigmentation Large hands Growth abnormality Sleep apnea Acanthosis nigricans Hoarse voice Mitral regurgitation Osteoarthritis Thick lower lip vermilion Migraine Wide nose Hypersomnia Deep plantar creases Paresthesia Ventriculomegaly Babinski sign Delayed skeletal maturation Inguinal hernia Areflexia Cerebral atrophy Immunodeficiency Intellectual disability, mild Cerebellar atrophy Myopathy Intellectual disability, severe Hydrocephalus Talipes equinovarus Pituitary prolactin cell adenoma Dysarthria Hyperreflexia Epicanthus Delayed speech and language development Spasticity Muscle weakness Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Long face Hypertrophic cardiomyopathy Prominent forehead Brachycephaly Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Knee flexion contracture Subcutaneous nodule Split hand Interphalangeal joint contracture of finger Hirsutism Bulbous nose Proptosis Pes cavus Hip contracture Enlarged labia minora Axenfeld anomaly Angiokeratoma Abnormal anterior chamber morphology Gingival fibromatosis Juvenile rheumatoid arthritis Telangiectasia of the skin Abnormality of dental enamel Pallor Conductive hearing impairment Hyperkeratosis Abnormality of the ear Ankle contracture Hypertension Metacarpal osteolysis 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 Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Severe generalized osteoporosis Ankylosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Recurrent respiratory infections Gait ataxia Short philtrum Abnormality of the ilium Cryptorchidism Abnormal facial shape Microcephaly Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Hypoplastic inferior ilia Visual impairment Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis High palate Intrauterine growth retardation Thoracolumbar kyphosis Retrognathia Stroke Nyctalopia Wide mouth Paralysis Protruding ear Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Neonatal hypotonia Thin upper lip vermilion Gastroesophageal reflux Downslanted palpebral fissures Reduced visual acuity Rod-cone dystrophy Cerebellar hypoplasia Clinodactyly of the 5th finger Visual loss Obesity Dilatation Microphthalmia Blindness Respiratory distress Ventricular septal defect Vacuolated lymphocytes Abnormal echocardiogram Skeletal dysplasia Delayed myelination Hallucinations Limb ataxia Amblyopia Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Type II diabetes mellitus Peripheral demyelination Hip dysplasia Decreased antibody level in blood Dental malocclusion Gliosis Recurrent bacterial infections Progressive cerebellar ataxia Neurodegeneration Confusion Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Pectus carinatum Mental deterioration Hepatosplenomegaly Umbilical hernia Spastic gait Increased intracranial pressure Synovitis Severe sensorineural hearing impairment Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Limb dystonia Prominent supraorbital ridges Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Impaired temperature sensation



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

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