Arthritis, and Apnea

Diseases related with Arthritis and Apnea

In the following list you will find some of the most common rare diseases related to Arthritis and Apnea 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 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

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Other less relevant matches:

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

Low match AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME


Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015).

AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME Is also known as copa syndrome

Related symptoms:

  • Pain
  • Respiratory distress
  • Arthralgia
  • Arthritis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME

Low match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Apnea

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Sleep apnea Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia Ascending tubular aorta aneurysm Abnormal lung morphology Intellectual disability Hyperlordosis Dilatation Joint hyperflexibility Migraine Mitral valve prolapse Kyphosis Malar flattening Fatigue Glaucoma Neoplasm Hip dislocation Back pain Flexion contracture Anemia Paresthesia Gastroesophageal reflux Joint hypermobility Subcutaneous nodule Abnormality of the dentition Micromelia Generalized hypotonia Genu varum Macrocephaly Abnormality of the metaphysis Skeletal dysplasia Spinal canal stenosis Muscle weakness Short stature Abnormal form of the vertebral bodies

Rare Symptoms - Less than 30% cases


Aortic regurgitation Vertigo Thin skin Sleep disturbance Microdontia Arterial stenosis Reduced consciousness/confusion Hemoptysis Gingival overgrowth Joint dislocation Joint laxity Umbilical hernia Myalgia Pes planus Inguinal hernia Arrhythmia Epicanthus Ptosis Dysuria Acanthosis nigricans Tall stature Mitral regurgitation Long face Gastrointestinal infarctions Hypertrophic cardiomyopathy Osteolysis Striae distensae Keratoconus Aortic dissection Redundant skin High, narrow palate Deeply set eye Pectus excavatum Abnormality of cardiovascular system morphology Respiratory insufficiency Hypopnea Aortic aneurysm Obstructive sleep apnea Dilatation of the cerebral artery Tinnitus Overgrowth Subarachnoid hemorrhage Pneumothorax Chest pain Lymphoma Weight loss Hydrocephalus Abnormality of the skeletal system Spontaneous pneumothorax Abnormal heart valve morphology Abnormal joint morphology Cystocele Arterial dissection Abnormality of the gingiva Aplasia/Hypoplasia of the abdominal wall musculature Gingivitis Aortic root aneurysm Leukemia Myeloid leukemia Hyperhidrosis Growth abnormality Hearing impairment Congestive heart failure Cervical myelopathy Childhood onset short-limb short stature Myelopathy Midface retrusion Disproportionate short stature Hernia Restrictive ventilatory defect Brachydactyly Spondyloepiphyseal dysplasia Rhizomelia Respiratory distress Severe short stature Lumbar hyperlordosis Short toe Limitation of joint mobility Retinal detachment Autoimmunity Flat face Abnormality of pelvic girdle bone morphology Pectus carinatum Abnormality of the elbow Abnormality of femur morphology Growth delay Broad forehead Hypertelorism Myopia Talipes equinovarus Frontal bossing Cataract Depressivity Narrow mouth Proptosis Hammertoe Epiphora Premature birth Protruding ear Carious teeth Rocker bottom foot Abnormality of skin pigmentation Large for gestational age Thin vermilion border Heart murmur Bruising susceptibility Abnormal bleeding Telecanthus Abnormality of the face Abnormality of the skin Ectopia lentis Narrow palate Melanocytic nevus Cleft palate Rheumatoid arthritis Muscular hypotonia Hypokalemia Abnormality of the urinary system Abnormal intestine morphology Blue sclerae Short chin Sensorineural hearing impairment Congenital hip dislocation Cardiac arrest Congenital contracture Telangiectasia Hypospadias Alopecia Emphysema Cognitive impairment Nystagmus Protrusio acetabuli Dural ectasia Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Hypoplasia of the musculature Homocystinuria Flat cornea Low back pain Pulmonary edema Spondylolisthesis Megalocornea Genu recurvatum Thoracic kyphosis Meningocele Arachnoid cyst Premature osteoarthritis Hypertropia Hypoplasia of the iris Mitral annular calcification Cryptorchidism Global developmental delay Open bite Inferior oblique muscle overaction Medial rotation of the medial malleolus Decreased muscle mass Disproportionate tall stature Pulmonary artery dilatation Microspherophakia Incisional hernia Increased axial length of the globe Anisometropia Reduced subcutaneous adipose tissue Aplasia/Hypoplasia of the eyebrow Abnormality of the sternum Cystic medial necrosis Slender finger Overjet Esophageal atresia Macule Seizures Vasculitis Skin ulcer Anorexia Myocardial infarction Pulmonary arterial hypertension Neurological speech impairment Retinopathy Fever Crescentic glomerulonephritis Gangrene Pulmonary hemorrhage Aseptic necrosis Pathologic fracture Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Glomerulonephritis Tachypnea Cough Abnormality of the kidney Psoriasiform dermatitis Cerebral ischemia Hemothorax Leukopenia Chronic myelomonocytic leukemia Monocytosis Refractory anemia Acute monocytic leukemia Immune dysregulation Acute myeloid leukemia Myelodysplasia Systemic lupus erythematosus Melanoma Bone marrow hypocellularity Abnormal aortic valve morphology Eczema Asthma Increased inflammatory response Hypertensive crisis Arteritis Amaurosis fugax Abnormal endocardium morphology Abnormal pattern of respiration Inflammatory abnormality of the eye Hypermobility of distal interphalangeal joints Premature delivery because of cervical insufficiency or membrane fragility Narrow nasal bridge Transient ischemic attack Periorbital edema Bladder diverticulum Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Osteolytic defects of the phalanges of the hand Varicose veins Hematochezia Abnormally large globe Periodontitis Narrow nose Bowing of the long bones Abnormal eyelash morphology Alopecia of scalp Premature loss of teeth Sprengel anomaly Elbow flexion contracture Prematurely aged appearance Scleroderma Fragile skin Telangiectasia of the skin Premature loss of primary teeth Ocular pain Hypoplastic lacrimal duct Normal pressure hydrocephalus Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Peripheral arteriovenous fistula Abnormality of hair texture Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Internal hemorrhage Colonic diverticula Abnormal oral frenulum morphology Dermal translucency Excessive wrinkled skin Spontaneous abortion Peripheral axonal neuropathy Narrow face Hypoplasia of the odontoid process Vestibular dysfunction Abdominal distention Short thorax Nausea Progressive sensorineural hearing impairment Abnormality of the foot Malabsorption Nausea and vomiting Vitreoretinopathy Coxa vara Barrel-shaped chest Ovoid vertebral bodies Osteoporosis Constipation Limited elbow movement Flattened epiphysis Vomiting Limited hip movement Cortical diaphyseal thickening of the upper limbs Bowing of the legs Wormian bones Broad jaw Acrocyanosis Premature rupture of membranes Anorectal anomaly Pulmonary hypoplasia Abnormality of the menstrual cycle Venous insufficiency Gastrointestinal dysmotility Abnormality of the wrist Atypical scarring of skin Waddling gait Abnormality of epiphysis morphology Soft skin Limb undergrowth High myopia Keratoconjunctivitis sicca Decreased fertility Elbow dislocation Hyperextensible skin Decreased nerve conduction velocity Abnormal palate morphology Abnormality of reproductive system physiology Macrodactyly Retinal degeneration Limitation of knee mobility Delayed pubic bone ossification Abnormality of the fingernails Generalized hirsutism Hoarse voice Thickened skin Sciatica Neonatal short-trunk short stature Thick lower lip vermilion Full cheeks Cerebral palsy Macroglossia Tapered finger Wide nose Delayed calcaneal ossification Synophrys Anxiety Coarse facial features Macrotia Mandibular prognathia Widely spaced teeth Acne Dysmenorrhea Deep palmar crease Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Neoplasm of the endocrine system Large hands Retinoschisis Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Joint swelling Palpebral edema Generalized hyperpigmentation Impotence Tendon rupture Genital hernia Exotropia Limited hip extension Peripheral neuropathy High palate Strabismus Micrognathia Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Brain stem compression Edema Small foramen magnum Iritis Cervical cord compression Obstructive lung disease Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Downslanted palpebral fissures Myopathy Multiple epiphyseal dysplasia Diabetes mellitus Amblyopia Dental crowding Decreased body weight Cardiomegaly Abnormality of the cardiovascular system Esotropia Dental malocclusion Polyneuropathy Arachnodactyly Short neck Dolichocephaly Stroke Camptodactyly Gait disturbance Retrognathia Kyphoscoliosis Pes cavus Visual loss Clinodactyly Hypoxemia Cor pulmonale Genu valgum Abnormality of the nervous system Epidermal acanthosis Polydactyly Otitis media Respiratory tract infection Oral cleft Confusion Scarring Cleft lip Conductive hearing impairment Recurrent otitis media Rigidity Obesity Ventriculomegaly Platyspondyly Hyperreflexia Depressed nasal bridge Motor delay Delayed speech and language development Narrow chest Tetraparesis Recurrent urinary tract infections Central apnea Tibial bowing Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Hip contracture Neuroblastoma Limited elbow extension Clonus Bowel incontinence Short femoral neck Flared metaphysis Chronic otitis media Epiphyseal dysplasia Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Paraparesis Erythroid dysplasia



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

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