Arthritis, and Tapered finger

Diseases related with Arthritis and Tapered finger

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


Top matches:

Medium 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

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Low match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

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 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

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

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

Top 5 symptoms//phenotypes associated to Arthritis and Tapered finger

Symptoms // Phenotype % cases
Arachnodactyly Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Mitral valve prolapse Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Joint hypermobility Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Mitral regurgitation

Uncommon Symptoms - Between 30% and 50% cases


Dilatation

Common Symptoms - More than 50% cases


Osteoarthritis

Uncommon Symptoms - Between 30% and 50% cases


Joint laxity

Common Symptoms - More than 50% cases


Pes planus

Uncommon Symptoms - Between 30% and 50% cases


Tall stature Micrognathia High palate Pain Soft skin Bruising susceptibility Arthralgia Bifid uvula Pectus carinatum Kyphoscoliosis Hypertelorism Short stature Abnormality of the sternum Cleft palate Spondylolisthesis Intellectual disability Retrognathia Flexion contracture Downslanted palpebral fissures Pectus excavatum Malar flattening Abnormality of the skeletal system Edema Exotropia Myopia Disproportionate tall stature Ptosis Retinal detachment Cataract Generalized hypotonia Hiatus hernia Recurrent infections Joint hyperflexibility Arrhythmia Scarring Stroke Atrophic scars Muscular hypotonia Inguinal hernia Muscle weakness Dural ectasia Camptodactyly Long face Arterial tortuosity Thoracic aortic aneurysm Aortic dissection Dilatation of the cerebral artery Ectopia lentis Aortic aneurysm Aortic root aneurysm Macrotia Aortic regurgitation Dolichocephaly Subarachnoid hemorrhage Blue sclerae Striae distensae Kyphosis

Rare Symptoms - Less than 30% cases


High, narrow palate Prominent nose Cystic medial necrosis Overgrowth Neonatal hypotonia Single transverse palmar crease Joint contracture of the hand Ascending tubular aorta aneurysm Small for gestational age Clinodactyly Cardiomegaly Decreased muscle mass Reduced subcutaneous adipose tissue Smooth philtrum Proptosis Elbow flexion contracture Ascending aortic dissection Congestive heart failure Retinopathy Osteoporosis Talipes equinovarus Dental malocclusion Erythema Poor wound healing Joint dislocation Hypermelanotic macule Thin skin Abnormal joint morphology Skeletal muscle atrophy Peripheral neuropathy Atrial septal defect Patent ductus arteriosus Long fingers Bicuspid aortic valve Gingival overgrowth Back pain Glaucoma Midface retrusion Slender finger Gingivitis Celiac disease Low back pain Umbilical hernia Protrusio acetabuli Cerebral hemorrhage Rheumatoid arthritis Hyperextensible skin Neoplasm Gastroesophageal reflux Ventricular septal defect Failure to thrive Hoarse voice Depressed nasal bridge Growth delay Thick lower lip vermilion Migraine Hearing impairment Global developmental delay Motor delay Sleep apnea Macroglossia Diabetes mellitus Frontal bossing Synophrys Fatigue Seizures Broad forehead Thrombocytopenia Mandibular prognathia Growth abnormality Clinodactyly of the 5th finger Hyperhidrosis Sensorineural hearing impairment Strabismus Abnormality of the dentition Visual loss Increased antibody level in blood Fever Hepatomegaly Elevated erythrocyte sedimentation rate Microcytic anemia Rimmed vacuoles Basal ganglia calcification Intellectual disability, mild Anemia Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Glucose intolerance Conjunctivitis Lipodystrophy Splenomegaly Babinski sign Inability to walk Depressivity Lymphopenia Osteopenia Hepatosplenomegaly Bone pain Elevated hepatic transaminase Hyperpigmentation of the skin Hypertriglyceridemia Camptodactyly of finger Skin rash Lymphadenopathy Abnormality of the liver Hypertrophic cardiomyopathy Graves disease Pulmonic stenosis Acanthosis nigricans Widely spaced teeth Cerebral palsy Acne Large hands Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Impotence Generalized hyperpigmentation Generalized hirsutism Spinal canal stenosis Headache Palpebral edema Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Abnormality of the fingernails Osteochondritis Dissecans Cleft soft palate Arthrogryposis multiplex congenita Broad face Coarse facial features Long palpebral fissure Anxiety Abnormally large globe Patent foramen ovale Atrioventricular block Paresthesia Syncope Wide nose Thickened skin Abnormal cardiac septum morphology Brachycephaly Hyporeflexia Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Full cheeks Abdominal aortic aneurysm Hip osteoarthritis Myositis Panniculitis Clubbing of fingers Heart murmur Hypoplasia of the iris Megalocornea Restrictive ventilatory defect Open bite Emphysema Large for gestational age Rocker bottom foot Epiphora Hammertoe Congenital contracture Meningocele Redundant skin Narrow palate Spontaneous abortion Narrow face Amblyopia Dental crowding Decreased body weight Abnormal lung morphology Abnormality of the cardiovascular system Arachnoid cyst Obstructive sleep apnea Chest pain Hypertropia Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Microspherophakia Flat cornea Thoracic kyphosis Hypopnea Premature osteoarthritis Tricuspid valve prolapse Endocarditis Overbite Hypoplasia of the musculature Pneumothorax Homocystinuria Pulmonary edema Genu recurvatum Esotropia Polyneuropathy Immune dysregulation Posteriorly rotated ears Microretrognathia Finger clinodactyly Eczema Postaxial hand polydactyly Asthma Thin vermilion border Facial asymmetry Craniosynostosis Skeletal dysplasia Hypospadias Myopathic facies Hydrocephalus Adipose tissue loss Finger swelling Stiff skin Episcleritis Cigarette-paper scars Erythema nodosum Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Arnold-Chiari malformation Hallux valgus Peripheral axonal neuropathy Generalized arterial tortuosity Hyperlordosis Apnea Deeply set eye Pes cavus Abnormality of cardiovascular system morphology Myopathy Respiratory insufficiency Biconvex vertebral bodies Bicuspid pulmonary valve Descending thoracic aorta aneurysm Rhinitis Pulmonary artery aneurysm Multiple suture craniosynostosis Long thorax Unilateral ptosis Dermal translucency Long toe Sagittal craniosynostosis High anterior hairline Narrow nose Scaphocephaly Palmoplantar cutis laxa Premature loss of teeth Premature loss of primary teeth Sandal gap Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Intellectual disability, progressive Cubitus valgus Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Intrauterine growth retardation Long eyelashes Clumsiness Open mouth Lumbar hyperlordosis Failure to thrive in infancy Constriction of peripheral visual field Decreased fetal movement Microglossia Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Posterior subcapsular cataract Abnormality of dental morphology Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Abnormal facial shape Narrow nasal bridge Abnormality of the hip bone Truncal obesity Cryptorchidism Visual impairment High myopia Optic atrophy Tapetoretinal degeneration Wide mouth Genu valgum Delayed puberty Severe global developmental delay Neurological speech impairment Finger syndactyly Obesity Prominent nasal bridge Short philtrum Nyctalopia Paralysis Astigmatism Protruding ear Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Cerebellar hypoplasia Rod-cone dystrophy Reduced visual acuity Thin upper lip vermilion Microphthalmia Behavioral abnormality Narrow forehead Microcornea Pigmentary retinopathy Progressive visual loss Convex nasal ridge Otitis media Aciduria Growth hormone deficiency Macrocephaly Short metacarpal Hypoplasia of the maxilla Neutropenia Retinal degeneration Highly arched eyebrow Respiratory distress Small hand Cardiomyopathy Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Blindness Abnormality of skin pigmentation Recurrent aphthous stomatitis Thick hair Chronic pain Rectal prolapse Deep palmar crease Anterior hypopituitarism Pheochromocytoma Long penis Quadricuspid aortic valve Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Arteriosclerosis Paraganglioma Autoimmunity Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Adrenal hypoplasia Hypersomnia Galactorrhea Neoplasm of the endocrine system Carious teeth Psoriasiform dermatitis Skin vesicle Mitral stenosis Generalized joint laxity Periodontitis Joint swelling Gingival bleeding Hypothyroidism Growth hormone excess Broad foot Fragile skin Long nose Microdontia Agenesis of permanent teeth Abnormal toenail morphology Urticaria Dermal atrophy Cutis laxa Osteolysis Abnormality of the endocrine system Vasculitis Fine hair Dysuria Unilateral renal agenesis Deep plantar creases Iris atrophy Narrow philtrum Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow palm Long philtrum Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Anteverted nares Nystagmus Spina bifida occulta Proximal muscle weakness Spina bifida Pituitary prolactin cell adenoma Ambiguous genitalia Gastrointestinal hemorrhage Vesicoureteral reflux Sensory neuropathy Dysmenorrhea Macrodactyly Myalgia Broad jaw Microcephaly Abnormality of reproductive system physiology Cortical diaphyseal thickening of the upper limbs Hypertension Abnormal metacarpal morphology Abnormal vitreous humor morphology Pierre-Robin sequence Exostoses Glossoptosis Arthropathy Spondyloepiphyseal dysplasia Inferior oblique muscle overaction



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