Arthritis, and Hypotrichosis

Diseases related with Arthritis and Hypotrichosis

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


Top matches:

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 MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

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Other less relevant matches:

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match ICHTHYOSIS-HYPOTRICHOSIS SYNDROME


Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

ICHTHYOSIS-HYPOTRICHOSIS SYNDROME Is also known as ifah syndrome|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ihs|hypotrichosis-congenital ichthyosis syndrome

Related symptoms:

  • Hypotrichosis
  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

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 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 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 Hypotrichosis

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteopenia Hearing impairment Micrognathia Hypogonadism Sensorineural hearing impairment Osteolysis Rheumatoid arthritis Pain Intellectual disability Midface retrusion Osteoporosis Kyphosis Anemia Delayed eruption of teeth Osteoarthritis Sparse hair

Rare Symptoms - Less than 30% cases


Abdominal pain Insulin resistance Sparse scalp hair Hepatomegaly Splenomegaly Hepatic steatosis Sparse and thin eyebrow Hypohidrosis Decreased body weight Thin nail Limitation of joint mobility Malabsorption Edema Cardiomegaly Skeletal muscle atrophy Macrotia Dilated cardiomyopathy Cardiomyopathy Telangiectasia Fatigue Neoplasm Failure to thrive Narrow palate Flexion contracture Diabetes mellitus Congestive heart failure Ataxia Seizures Carious teeth Stroke Pericarditis Conductive hearing impairment Carcinoma Aseptic necrosis Brachydactyly Hypogonadotrophic hypogonadism Coxa valga Cataract Proptosis Malar flattening Short nose Abnormality of the dentition Sparse eyebrow Hyperhidrosis Inflammatory abnormality of the skin Ichthyosis Long philtrum Absent eyelashes Platyspondyly Genu valgum Scleroderma Aplastic clavicle Intestinal polyp Arteriosclerosis Peripheral edema Stiff neck Hip pain Carcinoid tumor Prolonged prothrombin time Absence of subcutaneous fat Premature coronary artery atherosclerosis Decreased testosterone in males Narrow nasal ridge Insulin-resistant diabetes mellitus at puberty Decreased serum estradiol Aplasia/Hypoplasia of the earlobes Generalized hirsutism Abnormality of retinal pigmentation Generalized osteoporosis Hypertrichosis Optic disc pallor Small face Pigmentary retinopathy Thin bony cortex Full cheeks Abnormality of skin pigmentation Retinopathy Pallor Precocious atherosclerosis Sinus tachycardia Enlarged joints Hyperkeratosis Intermittent claudication Mucopolysacchariduria Craniofacial disproportion Reticulated skin pigmentation Hypothyroidism Severe short stature Diarrhea Old-aged sensorineural hearing impairment Vomiting Bilateral coxa valga Nail dystrophy Short neck Narrow nasal tip Carotid artery stenosis Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Absence of pubertal development Kyphoscoliosis Nausea and vomiting Protein-losing enteropathy Bird-like facies Corneal arcus Thoracolumbar scoliosis Abnormal trabecular bone morphology Widely patent fontanelles and sutures Parietal bossing Thoracic kyphosis Mitral valve calcification Malnutrition Nausea Prominent scalp veins Cachexia Abnormal intestine morphology Chronic diarrhea Hypoplastic facial bones Bowing of the long bones Postural instability Abnormality of dental enamel Nephritis Telangiectasia of the skin Alcoholism Coarse facial features Ptosis Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Testicular atrophy Palmoplantar keratoderma Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Increased serum ferritin Hepatocellular carcinoma Osteomalacia Arthropathy Abnormal joint morphology Small hand Gastrointestinal hemorrhage Pleural effusion Neoplasm of the lung Clubbing of toes Cutis gyrata of scalp Abnormality of bone marrow cell morphology Eczematoid dermatitis Abnormal hair quantity Peptic ulcer Seborrheic dermatitis Abnormal cortical bone morphology Abnormal hair pattern Growth hormone excess Thickened skin Joint swelling Osteomyelitis Acne Genu varum Cerebral palsy Neoplasm of the skin Abnormality of the fingernails Gynecomastia Bone pain Abnormality of epiphysis morphology Impotence Azoospermia Juvenile rheumatoid arthritis Memory impairment Abnormality of coagulation Glomerulonephritis Angina pectoris Systemic lupus erythematosus Leukopenia Purpura Vasculitis Cutaneous photosensitivity Psychosis Abnormality of the skin Abnormality of the thyroid gland Hemolytic anemia Skin rash Autoimmunity Thrombocytopenia Cognitive impairment Enlarged labia minora Axenfeld anomaly Angiokeratoma Abnormal anterior chamber morphology Gingival fibromatosis Increased antibody level in blood Autoimmune hemolytic anemia Hepatic fibrosis Recurrent infections Hyperpigmentation of the skin Hepatitis Amenorrhea Ascites Hepatic failure Cirrhosis Abnormality of the liver Elevated hepatic transaminase Arrhythmia Serositis Thyroiditis Malar rash Complement deficiency Antiphospholipid antibody positivity Pleuritis Antinuclear antibody positivity Raynaud phenomenon Gangrene Hashimoto thyroiditis Epiphyseal stippling Autoimmune thrombocytopenia Lack of skin elasticity Dermal atrophy Prominent superficial veins Absent frontal sinuses Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Lens luxation Small distal femoral epiphysis Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Pierre-Robin sequence Meningeal calcification Generalized hypotonia Thickened calvaria Paraplegia Infantile muscular hypotonia Scapular winging Fine hair Microdontia Dental malocclusion Short metacarpal Bulbous nose Smooth philtrum Spastic paraplegia Dysarthria Pectus carinatum Protruding ear Hyperlordosis Low-set, posteriorly rotated ears Thin upper lip vermilion Pes planus Posteriorly rotated ears Recurrent respiratory infections Delayed skeletal maturation Aplasia cutis congenita Ectopia lentis Deep philtrum Comedo High palate Low-set ears Cleft palate Strabismus Nystagmus Hypertelorism Abnormal perifollicular morphology Sunken cheeks Folliculitis Depressed nasal bridge Follicular hyperkeratosis Abnormal eyebrow morphology Atopic dermatitis Aplasia/Hypoplasia of the skin Epiphora Spinal muscular atrophy Papule Scarring Erythema Visual impairment Epicanthus Sparse eyelashes Bifid uvula Amblyopia Recurrent otitis media Thick lower lip vermilion High myopia Cerebral calcification Otitis media Esotropia Ectodermal dysplasia Hypoplasia of the maxilla Wide nasal bridge Retinal detachment Flat face Congenital cataract Glaucoma Brachycephaly Depressivity Anteverted nares Frontal bossing Myopia Short metatarsal Cone-shaped epiphysis Osteolytic defects of the phalanges of the hand Hyperlipidemia Hyperinsulinemia Lipodystrophy Intracranial hemorrhage Nasal speech Pectus excavatum Relative macrocephaly Hypercholesterolemia Acanthosis nigricans Atherosclerosis Metaphyseal widening Aminoaciduria Hypergonadotropic hypogonadism Increased bone mineral density Aspiration Aortic valve stenosis Dental crowding Left ventricular hypertrophy Broad-based gait Thin skin Premature ovarian insufficiency Abnormality of the thorax Myocardial infarction Short clavicles Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Fragile nails Transient ischemic attack Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Heart murmur Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Multiple joint contractures Hypertriglyceridemia Abnormality of the cardiovascular system Short finger Flat capital femoral epiphysis Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Pseudohypoparathyroidism Growth delay Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Ivory epiphyses of the distal phalanges of the hand Abnormal facial shape Cyanosis Narrow chest Convex nasal ridge Nail dysplasia Growth hormone deficiency Chest pain Hypodontia Thin vermilion border Infertility Delayed puberty Hypermetropia Hypertension Hip dislocation Microtia Joint stiffness Hypertrophic cardiomyopathy Dyspnea Narrow mouth Prominent forehead Dementia Macrocephaly 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 Ascites, related diseases and genetic alterations

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