Arthritis, and Arachnodactyly

Diseases related with Arthritis and Arachnodactyly

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


Top matches:

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

Medium 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

Medium 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

Medium 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

Medium 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

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

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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

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

Top 5 symptoms//phenotypes associated to Arthritis and Arachnodactyly

Symptoms // Phenotype % cases
Mitral valve prolapse Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Pes planus Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Mitral regurgitation

Uncommon Symptoms - Between 30% and 50% cases


Osteoarthritis

Common Symptoms - More than 50% cases


Joint hypermobility

Uncommon Symptoms - Between 30% and 50% cases


Dilatation

Common Symptoms - More than 50% cases


Joint laxity

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Tall stature Soft skin Bruising susceptibility Malar flattening Hypertelorism High palate Cleft palate Abnormality of the sternum Disproportionate tall stature Joint hyperflexibility Short stature Pain Muscular hypotonia Ptosis Spondylolisthesis Retrognathia Kyphoscoliosis Inguinal hernia Cataract Myopia Pectus excavatum Intellectual disability Arthralgia Abnormality of the skeletal system Pectus carinatum Bifid uvula Exotropia Long face Striae distensae Blue sclerae Umbilical hernia Abnormality of the dentition Edema Flexion contracture Atrial septal defect Subarachnoid hemorrhage Hearing impairment Patent ductus arteriosus Talipes equinovarus Gastroesophageal reflux Kyphosis Strabismus Global developmental delay Aortic root aneurysm Ectopia lentis Ventricular septal defect Camptodactyly Generalized hypotonia Dural ectasia Thoracic aortic aneurysm Aortic dissection Dilatation of the cerebral artery Aortic aneurysm Aortic regurgitation Arterial tortuosity Dolichocephaly Retinal detachment Hiatus hernia Atrophic scars Stroke Glaucoma

Rare Symptoms - Less than 30% cases


Mandibular prognathia Smooth philtrum Diabetes mellitus Small for gestational age Neonatal hypotonia Proptosis Motor delay Growth delay Muscle weakness Protrusio acetabuli Fatigue Low back pain Overgrowth Arrhythmia Myalgia Slender finger Scarring Back pain Bicuspid aortic valve Single transverse palmar crease Seizures Microcephaly Dental malocclusion Migraine Failure to thrive Macrotia Broad forehead Joint contracture of the hand Clinodactyly of the 5th finger Long philtrum Abnormality of cardiovascular system morphology Visual loss Depressed nasal bridge Multiple suture craniosynostosis Cystic medial necrosis Ascending tubular aorta aneurysm High, narrow palate Tapered finger Asthma Sleep apnea Synophrys Clinodactyly Meningocele Hypospadias Hydrocephalus Frontal bossing Midface retrusion Ascending aortic dissection Sensorineural hearing impairment Retinopathy Celiac disease Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Gastrointestinal hemorrhage Vesicoureteral reflux Peripheral neuropathy Abnormal facial shape Short philtrum Abnormal joint morphology Recurrent infections Hypothyroidism Osteoporosis Hyperextensible skin Anxiety Gingivitis Feeding difficulties in infancy Autoimmunity Cryptorchidism Joint dislocation Depressivity Obesity Thrombocytopenia Neoplasm Microphthalmia Prominent nasal bridge Thin skin Spina bifida Laryngomalacia Intrauterine growth retardation Hoarse voice Rheumatoid arthritis Optic atrophy Acne Behavioral abnormality Carious teeth Poor wound healing Gingival overgrowth Turricephaly Hypoparathyroidism Abnormal lung lobation Finger syndactyly Neurological speech impairment Severe global developmental delay Posterior embryotoxon Delayed puberty Bipolar affective disorder Retinal dystrophy Genu valgum Microcornea Overfolded helix Chronic otitis media Aciduria Growth hormone deficiency Dysphasia Prominent nose Short metacarpal Hypoplasia of the maxilla Bowel incontinence Neutropenia Foot polydactyly Hyperthyroidism Highly arched eyebrow Small hand Thick vermilion border Wide mouth Iris coloboma Thick eyebrow Abnormality of skin pigmentation Retinal degeneration Astigmatism Nyctalopia Abnormality of the skull Paralysis Impaired T cell function Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Hypertensive crisis Otitis media Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Tetany Occipital myelomeningocele Hypoplasia of the thymus Seborrheic dermatitis Arrhinencephaly Abnormal thrombocyte morphology Platybasia Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Corneal neovascularization Abnormality of the uterus Patellar dislocation Varicose veins Protruding ear Multiple renal cysts Respiratory tract infection Postnatal growth retardation Intellectual disability, moderate Truncus arteriosus Thin upper lip vermilion Abnormal eyelid morphology Reduced visual acuity Nystagmus Atelectasis Chronic obstructive pulmonary disease Rod-cone dystrophy Cerebellar hypoplasia Blindness Cardiomyopathy Respiratory distress Macrocephaly Visual impairment Abnormality of reproductive system physiology Impotence Convex nasal ridge Laryngeal stenosis Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Hyperplasia of the maxilla Cat cry Neoplasm of the endocrine system Deep palmar crease Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Anterior hypopituitarism Pheochromocytoma Thick hair Tapetoretinal degeneration Hypoplastic philtrum Slender toe Recurrent aphthous stomatitis Abnormality of the fingernails Growth abnormality Cerebral palsy Widely spaced teeth Acanthosis nigricans Generalized hyperpigmentation Spinal canal stenosis Palpebral edema Joint swelling Growth hormone excess Broad foot Abnormal toenail morphology Generalized hirsutism Hypertension Thickened skin Abnormality of the endocrine system Dysuria Thick lower lip vermilion Full cheeks Macroglossia Wide nose Paresthesia Hypertrophic cardiomyopathy Coarse facial features Hyperhidrosis Long penis Aplasia/Hypoplasia of the earlobes Progressive visual loss Intellectual disability, progressive Large hands Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Low anterior hairline Constriction of peripheral visual field Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Long eyelashes Clumsiness Open mouth Lumbar hyperlordosis High myopia Decreased fetal movement Narrow forehead Pigmentary retinopathy Cubitus valgus Abnormality of dental morphology Abnormality of the larynx Misalignment of teeth Bone spicule pigmentation of the retina Paraganglioma Hypersomnia Galactorrhea Deep plantar creases Macular edema Furrowed tongue Pituitary prolactin cell adenoma Dysmenorrhea Deep venous thrombosis Hand polydactyly Macrodactyly Truncal obesity Facial hypotonia Broad jaw Vocal cord paralysis Microglossia Posterior subcapsular cataract Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Narrow nasal bridge Abnormality of the hip bone Abnormality of the thorax Restrictive ventilatory defect Cholelithiasis Atrial fibrillation Brachycephaly Hyporeflexia Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Abdominal aortic aneurysm Hip osteoarthritis Osteochondritis Dissecans Left ventricular hypertrophy Ventricular hypertrophy Arthrogryposis multiplex congenita Pulmonic stenosis Headache Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Abnormal cardiac septum morphology Syncope Premature loss of primary teeth Craniosynostosis Hallux valgus Myopathic facies Arnold-Chiari malformation Microretrognathia Finger clinodactyly Eczema Postaxial hand polydactyly Thin vermilion border Facial asymmetry Skeletal dysplasia Atrioventricular block Posteriorly rotated ears Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Graves disease Cleft soft palate Broad face Long palpebral fissure Patent foramen ovale Cigarette-paper scars Chronic pain Scaphocephaly Sensory neuropathy Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Adrenal hypoplasia Unilateral renal agenesis Psoriasiform dermatitis Spina bifida occulta Ambiguous genitalia Proximal muscle weakness Muscle fiber splitting Skeletal muscle atrophy Abnormal metacarpal morphology Abnormal vitreous humor morphology Pierre-Robin sequence Exostoses Glossoptosis Arthropathy Long fingers Spondyloepiphyseal dysplasia Anteverted nares Increased connective tissue Rectal prolapse Mitral stenosis Urticaria Generalized joint laxity Periodontitis Gingival bleeding Premature loss of teeth Fragile skin Skin vesicle Long nose Agenesis of permanent teeth Hypermelanotic macule Dermal atrophy Arteriosclerosis Cutis laxa Osteolysis Vasculitis Fine hair Microdontia Erythema Quadricuspid aortic valve Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Rhinitis Narrow nose Polycystic kidney dysplasia Increased axial length of the globe Short neck Wide nasal bridge Epicanthus Low-set ears Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Incisional hernia Anisometropia Splenomegaly Overjet Spontaneous pneumothorax Microspherophakia Hypertropia Flat cornea Hypopnea Premature osteoarthritis Tricuspid valve prolapse Endocarditis Overbite Intellectual disability, mild Immunodeficiency Pneumothorax Tetralogy of Fallot Nasal speech Schizophrenia Hypopigmented skin patches Purpura Abnormality of dental enamel Hypocalcemia Aganglionic megacolon Choanal atresia Renal hypoplasia Specific learning disability Constipation Intestinal malrotation Bulbous nose Anal atresia Attention deficit hyperactivity disorder Telecanthus Conductive hearing impairment Polyhydramnios Narrow mouth Autism Upslanted palpebral fissure Hypoplasia of the musculature Homocystinuria High anterior hairline Myopathy Esotropia Chest pain Polyneuropathy Peripheral axonal neuropathy Hyperlordosis Apnea Deeply set eye Pes cavus Congestive heart failure Respiratory insufficiency Cardiomegaly Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Long thorax Unilateral ptosis Dermal translucency Long toe Sagittal craniosynostosis Abnormality of the cardiovascular system Abnormal lung morphology Pulmonary edema Rocker bottom foot Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Arachnoid cyst Hypoplasia of the iris Megalocornea Open bite Emphysema Large for gestational age Epiphora Decreased body weight Hammertoe Heart murmur Congenital contracture Redundant skin Narrow palate Spontaneous abortion Elbow flexion contracture Narrow face Amblyopia Dental crowding Cortical diaphyseal thickening of the upper limbs



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more