Arthritis, and Hirsutism

Diseases related with Arthritis and Hirsutism

In the following list you will find some of the most common rare diseases related to Arthritis and Hirsutism 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 RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES 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

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Other less relevant matches:

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

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

Low 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 MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

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

Top 5 symptoms//phenotypes associated to Arthritis and Hirsutism

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Full cheeks Brachydactyly Mandibular prognathia Hypothyroidism Conductive hearing impairment Kyphoscoliosis Diabetes mellitus Osteoarthritis Frontal bossing Coarse facial features Abnormality of the dentition Flexion contracture Joint hyperflexibility Hypertension Short neck Micrognathia Hoarse voice Thickened skin Seizures Delayed eruption of teeth Inguinal hernia Umbilical hernia Abnormality of the skeletal system Genu valgum Generalized hirsutism

Rare Symptoms - Less than 30% cases


Widely spaced teeth Abnormality of the fingernails Macroglossia Short clavicles Epididymal cyst Hypertelorism Bowing of the long bones Cone-shaped epiphyses of the phalanges of the hand Pectus carinatum Hepatosplenomegaly Stiff neck Recurrent otitis media Severe short stature Malabsorption Edema Wrist flexion contracture Hypoplasia of the maxilla Neoplasm Short humerus Macrotia Proportionate short stature Vomiting Interphalangeal joint contracture of finger Small hand Proptosis Bulbous nose Pes planus Arthralgia Abnormality of the ribs Growth delay Talipes equinovarus Anxiety Paresthesia Renal hypoplasia Mucopolysacchariduria Hydronephrosis Wide nasal bridge Osteolysis Atrial septal defect Rheumatoid arthritis Prominent nose Jaundice Otitis media Hypospadias Prominent supraorbital ridges Postnatal growth retardation Strabismus Global developmental delay Decreased body weight Expressive language delay Failure to thrive Sensorineural hearing impairment Pectus excavatum Abnormal heart morphology Hypertrichosis Intellectual disability, mild Alopecia Urethral atresia Long neck Abnormality of the pubic bone Motor delay Frontal hirsutism Megacystis Ureteral obstruction Prune belly Ureteral stenosis Hypoplastic facial bones Obtuse angle of mandible Anisospondyly Vesicoureteral reflux Anterior concavity of thoracic vertebrae Headache Incisional hernia Restricted chest movement Abnormality of nasopharyngeal adenoids Clinodactyly Abnormality of the Eustachian tube Abnormality of cardiovascular system morphology Ridged cranial sutures Cleft palate Dilatation Pain Microcephaly Intrauterine growth retardation Dysarthria Hyperreflexia Delayed speech and language development High palate Cognitive impairment Low-set ears Cryptorchidism Abnormal facial shape Respiratory insufficiency Craniofacial hyperostosis Tricuspid valve prolapse Wide anterior fontanel Short thorax Delayed skeletal maturation Thoracic hypoplasia Ectopic kidney Flared metaphysis Melanocytic nevus Coarse hair Coxa valga Facial asymmetry Pulmonic stenosis Omphalocele Abnormality of the metaphysis Short distal phalanx of finger Nevus Pulmonary arterial hypertension Oligohydramnios Mitral valve prolapse Tetralogy of Fallot Growth hormone deficiency Long fingers Limited elbow extension Sclerosis of skull base High forehead Complete atrioventricular canal defect Pneumonia Intestinal malrotation Small face Recurrent respiratory infections Prominent forehead Abnormal cortical bone morphology Hypoplastic pelvis Osteolytic defects of the phalanges of the hand Narrow chest Hypoplastic scapulae Misalignment of teeth Retrognathia Skeletal dysplasia Respiratory tract infection Atrioventricular canal defect Abnormal cardiac septum morphology Hip dislocation Tibial bowing Delayed cranial suture closure Short philtrum Clinodactyly of the 5th finger Enlarged naris Ichthyosis Hypotrichosis Papule Scarring Erythema Skeletal muscle atrophy Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Congenital posterior urethral valve Sparse eyebrow Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Short upper lip Spinal dysraphism Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia Enlarged joints Inflammatory abnormality of the skin Spinal muscular atrophy Villous atrophy Nausea and vomiting Peripheral edema Protein-losing enteropathy Thoracolumbar scoliosis Thoracic kyphosis Scleroderma Malnutrition Cachexia Abnormal intestine morphology Chronic diarrhea Postural instability Nausea Platyspondyly Epiphora Nail dystrophy Abdominal pain Diarrhea Abnormal perifollicular morphology Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Atopic dermatitis Aplasia/Hypoplasia of the skin 11 pairs of ribs Enuresis Babinski sign Wide mouth Downturned corners of mouth Thin vermilion border Smooth philtrum Poor speech Hypermetropia Small for gestational age Neurological speech impairment Prominent nasal bridge Tonsillitis Camptodactyly of finger Craniosynostosis Joint stiffness Broad nasal tip Feeding difficulties in infancy Intellectual disability, moderate Telecanthus Joint laxity Aggressive behavior Deeply set eye Thin upper lip vermilion Gastroesophageal reflux Hyperactivity Upslanted palpebral fissure Posteriorly rotated ears Constipation Triangular face Dental malocclusion Short attention span Abnormality of the voice Abnormality of the clavicle Short columella Lipoma Sprengel anomaly Celiac disease High pitched voice Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Nasal speech Underdeveloped nasal alae Abnormality of the hand Nephrocalcinosis Finger clinodactyly Short thumb Long eyelashes Broad thumb Short palpebral fissure Low posterior hairline Apraxia Coarctation of aorta Hypoplasia of penis Microdontia Recurrent upper and lower respiratory tract infections Deep plantar creases Dermatan sulfate excretion in urine Abnormality of exocrine pancreas physiology Split hand Corneal opacity Osteopenia Brachycephaly Osteoporosis Pes cavus Cataract Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Gingival overgrowth Decreased numbers of nephrons Papillary cystadenoma of the epididymis Absent vas deferens Multiple glomerular cysts Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Subcutaneous nodule Knee flexion contracture Maturity-onset diabetes of the young Delayed closure of the anterior fontanelle Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Generalized osteoporosis Metaphyseal widening Vertebral compression fractures Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Biliary tract abnormality Bicornuate uterus Thin metacarpal cortices Juvenile rheumatoid arthritis Proteinuria Elevated hepatic transaminase Cerebral cortical atrophy Renal insufficiency Ataxia Enlarged labia minora Axenfeld anomaly Angiokeratoma Abnormal anterior chamber morphology Gingival fibromatosis Telangiectasia of the skin Abnormality of the liver Abnormality of dental enamel Narrow palate Abnormality of retinal pigmentation Telangiectasia Optic disc pallor Pigmentary retinopathy Abnormality of skin pigmentation Retinopathy Pallor Hyperkeratosis Abnormality of the kidney Infertility Elevated serum creatinine Polydipsia Gout Exocrine pancreatic insufficiency Renal cell carcinoma Acute kidney injury Hyperuricemia Glomerulopathy Glycosuria Hypoplasia of the uterus Glucose intolerance Unilateral renal agenesis Pyloric stenosis Stage 5 chronic kidney disease Chronic kidney disease Spastic paraparesis Multicystic kidney dysplasia Paraparesis Horseshoe kidney Nephrolithiasis Renal dysplasia Renal agenesis Renal cyst Hepatic steatosis Nephropathy Carpal osteolysis Osteolysis involving tarsal bones Abnormality of mucopolysaccharide metabolism Abnormal toenail morphology Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Broad foot Dysmenorrhea Growth hormone excess Joint swelling Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Acne Growth abnormality Sleep apnea Pituitary prolactin cell adenoma Macrodactyly Acanthosis nigricans Rhinitis Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Flared nostrils Thoracolumbar kyphosis Clubbing of fingers Abnormality of the skull Papilledema Protuberant abdomen Abnormal heart valve morphology Broad jaw Short finger Bowel incontinence Multiple joint contractures Abnormality of the cardiovascular system Abnormality of the skin Urinary incontinence Congestive heart failure Macrocephaly Hepatomegaly Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Cerebral palsy Tall stature Interphalangeal joint erosions Limb undergrowth Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Aortic regurgitation Hydrops fetalis Short phalanx of finger Postaxial hand polydactyly Short foot Hallux valgus Postaxial polydactyly Talipes Polydactyly Hernia Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Metatarsus adductus Prolonged neonatal jaundice Mitral regurgitation Fatigue Thick lower lip vermilion Migraine Tapered finger Wide nose Long face Synophrys Broad forehead Hypertrophic cardiomyopathy Hyperhidrosis Depressivity Valgus hand deformity Fibular hypoplasia Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Constrictive median neuropathy Short 1st metacarpal Short femur Dysostosis multiplex Short tibia Intestinal polyp



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