Arthritis, and Pes cavus

Diseases related with Arthritis and Pes cavus

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


Top matches:

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Medium match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Medium match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

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Other less relevant matches:

Medium match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

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 MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

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 KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY


Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

Related symptoms:

  • Peripheral neuropathy
  • Areflexia
  • Pes cavus
  • Sensory neuropathy
  • Peripheral demyelination


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

Top 5 symptoms//phenotypes associated to Arthritis and Pes cavus

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hypothyroidism Hypertension Micrognathia Hearing impairment Short stature Impaired vibration sensation in the lower limbs Osteolysis Rheumatoid arthritis Pain

Rare Symptoms - Less than 30% cases


Polyneuropathy Hyperlordosis Neoplasm Interphalangeal joint contracture of finger Hypoplasia of the maxilla Nephropathy Hepatomegaly Anemia Corneal opacity Camptodactyly of finger Diabetes mellitus Osteopenia Proptosis Arthropathy Reduced tendon reflexes Metatarsal osteolysis Metacarpal osteolysis Kyphoscoliosis Protrusio acetabuli Elbow flexion contracture Knee flexion contracture Thickened skin Decreased body weight Spasticity Delayed eruption of teeth Pes planus Kyphosis Abnormality of the substantia nigra Flexion contracture Cataract Restrictive ventilatory defect Urticaria Conjunctivitis Ichthyosis Glaucoma Osteolysis involving tarsal bones Carpal osteolysis Paresis of extensor muscles of the big toe Strabismus Transient hyperphenylalaninemia Anxiety Brisk reflexes Postural tremor Obsessive-compulsive behavior Torticollis Horizontal nystagmus Abnormality of extrapyramidal motor function Bradykinesia Parkinsonism Sleep disturbance Rigidity Limb dystonia Gait ataxia Depressivity Talipes equinovarus Fatigue Decreased CSF homovanillic acid Sensory neuropathy Paraplegia Spastic paraplegia Hyperreflexia Lower limb hyperreflexia Visual loss Generalized dystonia Progressive flexion contractures Focal dystonia Pulmonary artery dilatation Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Incisional hernia Subarachnoid hemorrhage Keratoconjunctivitis Hypoplastic fingernail Furrowed tongue Mitral annular calcification Dystrophic toenail Corneal erosion Endocarditis Abnormal eyelash morphology Medial rotation of the medial malleolus Squamous cell carcinoma of the skin Recurrent bacterial skin infections Corneal scarring Muscle weakness Respiratory insufficiency Abnormality of the skeletal system Cystic medial necrosis Downslanted palpebral fissures Myopia High palate Spontaneous pneumothorax Generalized hypotonia Keratoconjunctivitis sicca Abnormality of corneal stroma Overjet Trichiasis Moderate hearing impairment Anisometropia Corneal ulceration Increased axial length of the globe Generalized hyperkeratosis Alopecia of scalp Severe hearing impairment Myopathy Scarring Fine hair Progressive visual loss Nail dysplasia Palmoplantar keratoderma Carious teeth Nail dystrophy Severe global developmental delay Sparse hair Hypohidrosis Erythema Carcinoma Photophobia Hyperkeratosis Hyperhidrosis Cerebellar hypoplasia Alopecia Delayed skeletal maturation Aganglionic megacolon Sparse and thin eyebrow Tricuspid valve prolapse Squamous cell carcinoma Inferior oblique muscle overaction Cellulitis Macule Dural ectasia Areflexia Aplasia/Hypoplasia of the eyebrow Peripheral demyelination Hemiplegia/hemiparesis Skin ulcer Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Scaling skin Neoplasm of the skin Sparse eyelashes Decreased nerve conduction velocity Edema Malar flattening Congestive heart failure Sleep apnea Heart murmur Congenital contracture Aortic aneurysm Spondylolisthesis Ectopia lentis Redundant skin Back pain Aortic regurgitation Epiphora Narrow palate Pulmonary edema Spontaneous abortion Narrow face Exotropia Amblyopia Tall stature Dental crowding Hammertoe Aortic dissection Mitral regurgitation Decreased muscle mass Dilatation of the cerebral artery Aortic root aneurysm Striae distensae Slender finger Abnormality of the sternum Reduced subcutaneous adipose tissue Disproportionate tall stature Hypoplasia of the iris Rocker bottom foot Arachnoid cyst Meningocele Obstructive sleep apnea Thoracic kyphosis Genu recurvatum Open bite Emphysema Large for gestational age Abnormal lung morphology Cardiomegaly Megalocornea Clinodactyly Thoracic aortic aneurysm Apnea Camptodactyly Joint laxity Deeply set eye Retrognathia Arrhythmia Pectus excavatum Pectus carinatum Hernia Abnormality of cardiovascular system morphology Premature osteoarthritis Hypopnea Flat cornea Dilatation Hypertropia Microspherophakia Stroke Overbite Mitral valve prolapse Chest pain Abnormality of the dentition Abnormality of the cardiovascular system Overgrowth Low back pain Esotropia Homocystinuria Dental malocclusion Retinal detachment Dolichocephaly Pneumothorax High, narrow palate Joint hypermobility Long face Hypoplasia of the musculature Ascending tubular aorta aneurysm Peripheral axonal neuropathy Arachnodactyly Gastroesophageal reflux Hypertrichosis Blindness Muscle cramps Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Ragged-red muscle fibers Hoarse voice Insulin resistance Myocardial infarction Abnormality of the skin Tachycardia Axonal degeneration Paresthesia Abnormality of the liver Joint stiffness Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Coronary artery atherosclerosis Multiple lipomas Parkinsonism with favorable response to dopaminergic medication Wide nasal bridge Stage 5 chronic kidney disease Pulmonic stenosis Retinopathy Telecanthus Proteinuria Polyhydramnios Renal insufficiency Abnormal adipose tissue morphology Macrocytic anemia Increased HDL cholesterol concentration Neuropathic arthropathy Decreased LDL cholesterol concentration Alcoholism Hyperlipoproteinemia Gout Oligomenorrhea Lipoma Oromandibular dystonia Torsion dystonia Triangular face Progressive spastic paraplegia Abnormal brainstem MRI signal intensity Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Urinary urgency Nystagmus Spastic gait Lower limb spasticity Urinary incontinence Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Proximal muscle weakness Dementia Ataxia Motor delay Upper motor neuron dysfunction Abnormal cerebellum morphology Hyperactive deep tendon reflexes Resting tremor Gaze-evoked nystagmus Spastic diplegia Dysphonia Cerebral palsy Involuntary movements Confusion Tremor Abnormality of movement Abnormal pyramidal sign Irritability Difficulty walking Encephalopathy Dystonia Behavioral abnormality Hypertonia Downturned corners of mouth Limitation of joint mobility Visual impairment Hypermelanotic macule Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Abnormality of the thorax Generalized osteoporosis Metaphyseal widening Gingival overgrowth Subcutaneous nodule Split hand Small hand Hirsutism Bulbous nose Coarse facial features Vertebral compression fractures Delayed closure of the anterior fontanelle Osteoporosis Widened metacarpal shaft Cryptorchidism Sensorineural hearing impairment Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Interphalangeal joint erosions Wrist flexion contracture Thin metacarpal cortices Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Brachycephaly Frontal bossing Hypotelorism Azotemia Macrocephaly Optic atrophy Fever Wrist swelling Doll-like facies Ankle swelling Hypertensive retinopathy Ulnar deviation of the hand or of fingers of the hand Abnormality of metabolism/homeostasis Ulnar deviation of the hand Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Elevated alkaline phosphatase Cachexia EMG abnormality Abnormality of epiphysis morphology Splenomegaly Abdominal pain Brachydactyly Progressive sensorineural hearing impairment Hypertelorism Renal amyloidosis Hernia of the abdominal wall Episcleritis Recurrent aphthous stomatitis Abnormality of the nose Broad foot Uveitis Elevated erythrocyte sedimentation rate Myalgia Abnormality of the voice Abnormal palate morphology Cranial nerve paralysis Vasculitis Abnormality of the genital system Nephrotic syndrome Delayed puberty Skin rash Onion bulb formation



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

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