Ptosis, and Arthritis

Diseases related with Ptosis and Arthritis

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


Top matches:

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

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

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Other less relevant matches:

Low match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Low match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Low match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

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 LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Top 5 symptoms//phenotypes associated to Ptosis and Arthritis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mitral valve prolapse Hip dislocation Aortic root aneurysm Micrognathia High palate Osteoporosis Dilatation Flexion contracture Pes planus Edema Hyperhidrosis Kyphoscoliosis Limitation of joint mobility Talipes equinovarus Hypertelorism Malar flattening Ascending tubular aorta aneurysm Short stature Hearing impairment Soft skin Depressivity Proptosis Retrognathia Joint dislocation Ectopia lentis Mitral regurgitation Arrhythmia Fever Pain Fatigue Joint contracture of the hand Bruising susceptibility Abnormality of the skeletal system Short neck Hernia

Rare Symptoms - Less than 30% cases


Redundant skin Hip contracture Glossitis Arteritis Vasculitis Meningitis Exotropia Blue sclerae Abnormality of the sternum Osteolysis Bifid uvula Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Joint hypermobility Abnormality of epiphysis morphology Elevated erythrocyte sedimentation rate Arachnodactyly Growth delay Myopia Hyperextensible skin Skeletal dysplasia Pericarditis Ascending aortic dissection Joint laxity Joint stiffness Spondylolisthesis Conductive hearing impairment Umbilical hernia Arterial dissection Motor delay Glaucoma Osteopenia Midface retrusion Short nose Aortic dissection Recurrent pharyngitis Malabsorption Intellectual disability Paresthesia Arterial tortuosity Arthrogryposis multiplex congenita Coarse facial features Growth hormone excess Arthropathy Myalgia Small for gestational age Migraine Disproportionate tall stature Headache Acne Erythema Downslanted palpebral fissures Skin rash Patent foramen ovale Abdominal pain Joint swelling Vertigo Wormian bones Hematuria Generalized hypotonia Dolichocephaly Hallux valgus Atrophic scars Pectus carinatum Eczematoid dermatitis Cryptorchidism Nausea and vomiting Muscle weakness Epicanthus Camptodactyly Seborrheic dermatitis Pectus excavatum Patent ductus arteriosus Thickened skin Renal insufficiency Bilateral coxa valga Stroke Rocker bottom foot Cervical spine instability Increased arm span Nystagmus Visual impairment Weight loss Alopecia Visual loss Peripheral neuropathy Optic atrophy Blindness Ataxia Shoulder flexion contracture Graves disease Ventricular septal defect Breech presentation Abnormal cardiac septum morphology Neonatal hypotonia Dimple chin Brachycephaly Hyporeflexia Muscular hypotonia Syncope Chin with H-shaped crease Overbite Flexion contracture of toe Whistling appearance Abnormal auditory evoked potentials Ulnar deviation of the hand or of fingers of the hand Smooth philtrum Overgrowth Cleft soft palate Long palpebral fissure Mask-like facies Atrophy/Degeneration affecting the brainstem Broad face Distal arthrogryposis Hiatus hernia Malignant hyperthermia Celiac disease Tall stature Trismus Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Atrioventricular block Aortic regurgitation Long face Apnea Cough Hypospadias Postaxial hand polydactyly Asthma Thin vermilion border Facial asymmetry Broad forehead Craniosynostosis Posteriorly rotated ears Clinodactyly of the 5th finger Clinodactyly Atrial septal defect Finger clinodactyly Hydrocephalus Frontal bossing Global developmental delay Genital hernia Cystocele Tendon rupture Premature rupture of membranes Anorectal anomaly Abnormality of the gingiva Eczema Microretrognathia Venous insufficiency Thoracic aortic aneurysm Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Long thorax Dural ectasia Unilateral ptosis Dermal translucency Bicuspid aortic valve Long toe Sagittal craniosynostosis High anterior hairline Narrow nose Scaphocephaly Dilatation of the cerebral artery Rhinitis Myopathic facies Aortic aneurysm Arnold-Chiari malformation Abnormality of the menstrual cycle Gastrointestinal dysmotility Hepatic failure Arterial thrombosis Jaw claudication Retinal arteritis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Mediastinal lymphadenopathy Abnormality of the pleura Abnormal thrombocyte morphology Cerebral ischemia Abnormality of the dentition Gangrene Visual field defect Diabetes insipidus Ophthalmoparesis Skin ulcer Diplopia Anorexia Epistaxis Optic disc pallor Sudden cardiac death Vomiting Constipation Aplasia/Hypoplasia of the abdominal wall musculature Decreased nerve conduction velocity Abnormality of the wrist Atypical scarring of skin Acrocyanosis Gingivitis Striae distensae Keratoconjunctivitis sicca Keratoconus Decreased fertility Elbow dislocation Abnormal palate morphology Gastroesophageal reflux Gingival overgrowth Subcutaneous nodule Thin skin Microdontia Abdominal distention Sleep disturbance Nausea Joint hyperflexibility Abnormality of the foot Congenital contracture Hypoplasia of the brainstem Cervical lymphadenopathy Rheumatoid arthritis Cutis gyrata of scalp Respiratory distress Gait disturbance Macrocephaly Depressed nasal bridge Cataract Impaired temperature sensation Clubbing of toes Abnormality of bone marrow cell morphology Severe short stature Abnormal hair quantity Peptic ulcer Abnormal cortical bone morphology Abnormal hair pattern Neoplasm of the lung Aseptic necrosis Osteomyelitis Genu varum Kyphosis Hyperlordosis Neoplasm of the skin Neonatal respiratory distress Vitreoretinopathy Bell-shaped thorax Glossoptosis Tracheomalacia Chorioretinal atrophy Short thorax Flared metaphysis Spondyloepiphyseal dysplasia Coxa vara Retinopathy Rhizomelia Abnormality of the metaphysis Recurrent otitis media High myopia Round face Retinal detachment Micromelia Platyspondyly Cerebral palsy Abnormality of the fingernails Tracheal stenosis Abnormality of the vasculature Neoplasm Bursitis Ventral hernia Shoulder dislocation Squared iliac bones Knee dislocation Thin eyebrow Thoracic scoliosis Delayed skeletal maturation Bilateral ptosis Cutis laxa Narrow palate Low posterior hairline Webbed neck Papule Scarring Macrotia Abnormal heart morphology Large fontanelles Gynecomastia Periostosis Bone pain Gastrointestinal hemorrhage Palmoplantar keratoderma Small hand Splenomegaly Hepatomegaly Anemia Subperiosteal bone formation Hip pain Palmoplantar hyperkeratosis Wide cranial sutures Long clavicles Clubbing of fingers Osteolytic defects of the phalanges of the hand Flushing Heart block Thickened calvaria Clubbing Delayed epiphyseal ossification Hypoplastic pelvis Pterygium Abnormal emotion/affect behavior Strabismus Failure to thrive Microcephaly Seizures Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Pyuria Myopathy Arthralgia/arthritis Abnormality of nail color Coronary artery aneurysm Abnormal facial shape CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Abnormal oral mucosa morphology Wide nasal bridge Cerebellar atrophy Synovitis Flat face Nasal speech Adducted thumb Spina bifida occulta Knee flexion contracture Intellectual disability, profound Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Talipes Hypertonia Blepharophimosis Postnatal growth retardation Telecanthus Deeply set eye Mandibular prognathia Narrow mouth Prominent forehead Long philtrum Cholecystitis Cheilitis Disproportionate short-trunk short stature Flattened, squared-off epiphyses of tubular bones Irritability Proteinuria Jaundice Congestive heart failure Diarrhea Sensorineural hearing impairment Abnormal cartilage collagen Splayed epiphyses Lymphadenopathy Lumbar kyphoscoliosis Dumbbell-shaped long bone Rhegmatogenous retinal detachment Lens luxation Enlarged thorax Coronal cleft vertebrae Enlarged joints Hypoplastic ilia Respiratory tract infection Hepatitis Elevated C-reactive protein level Coronary artery atherosclerosis Inflammatory abnormality of the eye Abnormal myocardium morphology Allergy Myocarditis Tubulointerstitial nephritis Acute kidney injury Abnormal heart valve morphology Interstitial pulmonary abnormality Leukocytosis Myocardial infarction Hyponatremia Scaling skin Hypoalbuminemia Ischemic stroke Cranial nerve paralysis Conjunctivitis Decreased liver function Cholestasis Biconvex vertebral bodies



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