Arthritis, and Sleep disturbance

Diseases related with Arthritis and Sleep disturbance

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


Top matches:

Low match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Low 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

Low 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:

Low 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

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Sleep disturbance

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Sleep apnea Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperlordosis Pain Fatigue Hearing impairment Talipes equinovarus Depressivity Apnea Abnormality of the dentition Joint hyperflexibility Paresthesia Hip dislocation Joint hypermobility Abnormal lung morphology Back pain Mitral valve prolapse Gastroesophageal reflux Kyphosis Glaucoma Malar flattening Rheumatoid arthritis Hypertelorism Generalized hypotonia Short stature Ascending tubular aorta aneurysm Inguinal hernia Gingival overgrowth Umbilical hernia Pes planus Pectus carinatum Dilatation Flexion contracture Rigidity Abnormality of the metaphysis Spinal canal stenosis Genu varum Anxiety Arthralgia Pes cavus Abnormal form of the vertebral bodies Micromelia Skeletal dysplasia Macrocephaly Migraine

Rare Symptoms - Less than 30% cases


Acanthosis nigricans Congestive heart failure Aortic root aneurysm Myopia Cataract Pneumothorax Gingivitis Muscle weakness Tall stature Epicanthus Dilatation of the cerebral artery Growth delay Hernia Aplasia/Hypoplasia of the abdominal wall musculature High, narrow palate Subarachnoid hemorrhage Aortic dissection Abnormality of the gingiva Arterial dissection Chronic otitis media Macroglossia Malabsorption Dysuria Midface retrusion Mitral regurgitation Severe short stature Carious teeth Arrhythmia Aortic aneurysm Frontal bossing Cervical myelopathy Redundant skin Joint laxity Myelopathy Vertigo Disproportionate short stature Spontaneous pneumothorax Restrictive ventilatory defect Microdontia Ptosis Growth abnormality Striae distensae Thin skin Rhizomelia Subcutaneous nodule Lumbar hyperlordosis Joint dislocation Osteolysis Limitation of joint mobility Retinal detachment Flat face Long face Broad forehead Keratoconus Neoplasm Spondyloepiphyseal dysplasia Cystocele Deeply set eye Abnormality of the substantia nigra Limb dystonia Generalized dystonia Focal dystonia Progressive flexion contractures Decreased CSF homovanillic acid Transient hyperphenylalaninemia Paresis of extensor muscles of the big toe Lower limb hyperreflexia Nystagmus Motor delay Hyperreflexia Obstructive sleep apnea Gait disturbance Hypopnea Confusion Impaired vibration sensation in the lower limbs Brisk reflexes Cerebral palsy Babinski sign Brachydactyly Short toe Abnormality of pelvic girdle bone morphology Abnormality of the elbow Abnormality of femur morphology Childhood onset short-limb short stature Gait ataxia Postural tremor Hypothyroidism Parkinsonism Bradykinesia Abnormality of extrapyramidal motor function Horizontal nystagmus Torticollis Obsessive-compulsive behavior Tinnitus Behavioral abnormality Abnormality of cardiovascular system morphology Hydrocephalus Delayed speech and language development Pectus excavatum Coarse facial features Respiratory insufficiency Mandibular prognathia Overgrowth Abnormality of the skeletal system Hammertoe Arachnodactyly Heart murmur Brain stem compression Peripheral axonal neuropathy Visual loss Epiphora Polyneuropathy Congenital contracture Chest pain Clinodactyly Large for gestational age Kyphoscoliosis Abnormality of the sternum Camptodactyly Cor pulmonale Arachnoid cyst Megalocornea Slender finger Stroke Reduced subcutaneous adipose tissue Rocker bottom foot Disproportionate tall stature Decreased muscle mass Multiple epiphyseal dysplasia Open bite Dolichocephaly Emphysema Ectopia lentis Dental malocclusion Myopathy Exotropia Neonatal short-limb short stature Central sleep apnea Obstructive lung disease Spinal stenosis with reduced interpedicular distance Narrow face Cervical cord compression Iritis Thoracolumbar kyphosis Amblyopia Dental crowding Decreased body weight Trident hand Limited hip extension Small foramen magnum Chronic myelogenous leukemia Retrognathia Cardiomegaly Peripheral neuropathy Edema Esotropia Aortic regurgitation Narrow palate Spontaneous abortion Downslanted palpebral fissures High palate Recurrent ear infections Elbow flexion contracture Abnormality of the cardiovascular system Hypoxemia Strabismus Micrognathia Lumbar kyphosis in infancy Myelitis Hypoplasia of the iris Thin vermilion border Meningocele Periodontitis Premature loss of primary teeth Periorbital edema Bladder diverticulum Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Varicose veins Hematochezia Abnormally large globe Transient ischemic attack Ocular pain Narrow nose Abnormal eyelash morphology Alopecia of scalp Premature loss of teeth Sprengel anomaly Esophageal atresia Hemoptysis Prematurely aged appearance Scleroderma Abnormal joint morphology Fragile skin Arterial stenosis Abnormality of hair texture Telangiectasia of the skin Gingival recession Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Molluscoid pseudotumors Coronary artery aneurysm Pulmonary artery aneurysm Excessive wrinkled skin Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Internal hemorrhage Colonic diverticula Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Abnormal heart valve morphology Narrow nasal bridge Thoracic kyphosis Premature osteoarthritis Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Protrusio acetabuli Inferior oblique muscle overaction Dural ectasia Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Hypoplasia of the musculature Homocystinuria Low back pain Pulmonary edema Spondylolisthesis Genu recurvatum Medial rotation of the medial malleolus Global developmental delay Macule Abnormality of the skin Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Hypokalemia Abnormality of the urinary system Abnormal intestine morphology Short chin Congenital hip dislocation Cardiac arrest Telangiectasia Abnormality of the face Blue sclerae Premature birth Cryptorchidism Abnormal bleeding Bruising susceptibility Upper airway obstruction Abnormality of skin pigmentation Protruding ear Telecanthus Proptosis Narrow mouth Alopecia Hypospadias Cognitive impairment Central apnea Wormian bones Communicating hydrocephalus Polydactyly Waddling gait Pulmonary hypoplasia Retinal degeneration Genu valgum Narrow chest Platyspondyly Autoimmunity Respiratory tract infection Respiratory distress High myopia Short neck Cleft palate Muscular hypotonia Sensorineural hearing impairment Aspartylglucosaminuria Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Vascular skin abnormality Large face Limb undergrowth Abnormality of epiphysis morphology Beaking of vertebral bodies Limited hip movement Macrotia Diabetes mellitus Hyperhidrosis Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Flattened epiphysis Coxa vara Limited elbow movement Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Progressive sensorineural hearing impairment Short thorax Vestibular dysfunction Bowing of the legs Abnormal cortical bone morphology Macroorchidism Synophrys Spastic paraplegia Hyperactive deep tendon reflexes Resting tremor Gaze-evoked nystagmus Spastic diplegia Dysphonia Involuntary movements Abnormal cerebellum morphology Paraplegia Abnormality of movement Abnormal pyramidal sign Torsion dystonia Irritability Difficulty walking Encephalopathy Dystonia Hypertonia Tremor Spasticity Ataxia Bowing of the long bones Upper motor neuron dysfunction Parkinsonism with favorable response to dopaminergic medication Abnormality of the ulna Short nose Thickened calvaria Abnormal vertebral morphology Dyskinesia Thick vermilion border Neurological speech impairment Microtia Joint stiffness Recurrent respiratory infections Delayed skeletal maturation Splenomegaly Oromandibular dystonia Wide nasal bridge Hepatomegaly Abnormal facial shape Seizures Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Hypertrophic cardiomyopathy Wide nose Generalized joint laxity Depressed nasal bridge Leukemia Scarring Cleft lip Abnormality of the nervous system Conductive hearing impairment Weight loss Obesity Ventriculomegaly Anemia Lymphoma Genital hernia Tendon rupture Premature rupture of membranes Anorectal anomaly Abnormality of the menstrual cycle Venous insufficiency Gastrointestinal dysmotility Abnormality of the wrist Atypical scarring of skin Oral cleft Otitis media Soft skin Short femoral neck Osteopetrosis Megalencephaly Spinal cord compression Hip contracture Neuroblastoma Myeloid leukemia Tibial bowing Limited elbow extension Bowel incontinence Flared metaphysis Epidermal acanthosis Epiphyseal dysplasia Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Paraparesis Clonus Recurrent urinary tract infections Recurrent otitis media Tetraparesis Acrocyanosis Keratoconjunctivitis sicca Tapered finger Generalized hyperpigmentation Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Joint swelling Palpebral edema Impotence Long penis Large hands Acne Widely spaced teeth Abnormality of the fingernails Generalized hirsutism Hoarse voice Thickened skin Thick lower lip vermilion Full cheeks Pheochromocytoma Paraganglioma Decreased fertility Osteoporosis Elbow dislocation Hyperextensible skin Decreased nerve conduction velocity Abnormal palate morphology Abdominal distention Nausea Abnormality of the foot Nausea and vomiting Myalgia Constipation Hypersomnia Vomiting Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypermobility of distal interphalangeal joints



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