Arthritis, and Long face

Diseases related with Arthritis and Long face

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


Top matches:

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 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 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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Other less relevant matches:

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 OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

Low match MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Long face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Joint hypermobility Micrognathia Abnormality of the dentition Depressivity Inguinal hernia Ptosis Hypertelorism Seizures Global developmental delay High palate Abnormal facial shape Mitral regurgitation Tall stature Dental crowding Deeply set eye Ectopia lentis Glaucoma Strabismus Malabsorption Muscle weakness Feeding difficulties in infancy Microcephaly Kyphosis Failure to thrive Mitral valve prolapse Thrombocytopenia Mandibular prognathia Anxiety Respiratory insufficiency Low-set ears Osteoarthritis Gastroesophageal reflux Pes planus Dolichocephaly Carious teeth Neonatal hypotonia Behavioral abnormality Chronic otitis media Pectus carinatum Umbilical hernia Downslanted palpebral fissures Joint hyperflexibility Flexion contracture Growth delay Muscular hypotonia Arachnodactyly

Rare Symptoms - Less than 30% cases


Microphthalmia Intellectual disability, severe Cryptorchidism Reduced visual acuity Short philtrum Wide nasal bridge Renal insufficiency Congestive heart failure Hydrocephalus Attention deficit hyperactivity disorder Nystagmus Constipation Hearing impairment Visual impairment Acidosis Anemia Splenomegaly Long philtrum Feeding difficulties Atelectasis Abnormality of dental enamel Malar flattening Multiple renal cysts Patellar dislocation Narrow face Amblyopia Open bite Camptodactyly Meningocele Acne Dysphasia Arrhythmia Abnormality of cardiovascular system morphology Myopathy Proteinuria Recurrent respiratory infections Joint stiffness Urogenital fistula Homocystinuria Disproportionate tall stature Aciduria Metabolic acidosis Hematuria Congenital cataract Hip dislocation Autism Narrow palate Joint swelling Upslanted palpebral fissure Aortic dissection Smooth philtrum Full cheeks Macroglossia Retrognathia Paresthesia Broad forehead Coarse facial features Macrotia Frontal bossing Overgrowth Delayed speech and language development Exotropia Joint contracture of the hand Aortic regurgitation Spondylolisthesis Decreased muscle mass Reduced subcutaneous adipose tissue Abnormality of the sternum Sleep apnea Aortic root aneurysm Delayed skeletal maturation Hypertension Ventricular septal defect Cleft palate Hernia Pectus excavatum Dilatation Talipes equinovarus Kyphoscoliosis Hyporeflexia Motor delay Abnormality of the pharynx Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Seborrheic dermatitis Abnormal aortic valve morphology Abnormal thrombocyte morphology Retinal arteriolar tortuosity Hypoplasia of the thymus Conductive hearing impairment Tetany Corneal neovascularization Easy fatigability Abnormality of the uterus Chronic obstructive pulmonary disease Anorectal anomaly Bulbous nose Hypertensive crisis Hypothyroidism Narrow philtrum Areflexia Blindness Narrow mouth Ventriculomegaly Cognitive impairment Skeletal muscle atrophy Facial palsy Occipital myelomeningocele Abnormal aortic arch morphology Abnormality of the tonsils Polyhydramnios Tricuspid atresia Ophthalmoplegia Progressive muscle weakness Multiple suture craniosynostosis Varicose veins Poor head control Tricuspid regurgitation Abnormality of the skull Abnormal eyelid morphology Hypocalcemia Nasal speech Laryngomalacia Schizophrenia Hypopigmented skin patches Purpura Aortic valve stenosis Prominent nasal bridge Abnormality of the skin Spina bifida Polycystic kidney dysplasia Aganglionic megacolon Choanal atresia Anal atresia Renal hypoplasia Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Autoimmunity Cholelithiasis Truncus arteriosus Posterior embryotoxon Asthma Ophthalmoparesis High pitched voice Hip contracture Myalgia Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Foot polydactyly Hand polydactyly Hyperthyroidism Thin upper lip vermilion Bowel incontinence Abnormality of the pinna Pulmonic stenosis Telecanthus Prominent nose Overfolded helix Abnormality of the thorax Pointed chin Abnormality of dentin EEG abnormality Sleep disturbance Hypoammonemia Dense posterior cortical cataract Hepatomegaly Hyperaldosteronism Short nose Microtia Neurological speech impairment Thick vermilion border Dyskinesia Gingivitis Gingival overgrowth Periodontitis Abnormal vertebral morphology Atypical scarring of skin Renal tubular acidosis Osteomalacia Glomerulopathy Thickened calvaria Abnormal joint morphology Hyperparathyroidism Abnormality of the ulna Pathologic fracture Macroorchidism Wrist swelling Taurodontia Abnormal cortical bone morphology Chorioretinal dysplasia Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Lentiglobus Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Oligosacchariduria Renal tubular dysfunction Vitamin D deficiency Proximal renal tubular acidosis Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Generalized hypopigmentation Beaking of vertebral bodies Hypophosphatemia Aggressive behavior Recurrent fractures Subcutaneous nodule Syndactyly Abnormality of the metaphysis Open mouth Sparse scalp hair Fine hair Abnormality of the ribs Dehydration Increased serum lactate Abnormal bleeding Delayed eruption of teeth Nephrolithiasis Everted lower lip vermilion Genu valgum Delayed puberty Autistic behavior Platyspondyly Corneal opacity Camptodactyly of finger Protruding ear Irritability Low-set, posteriorly rotated ears Intellectual disability, moderate Hypoplasia of dental enamel Stereotypy Large face Abnormality of amino acid metabolism Vascular skin abnormality Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Self-injurious behavior Glomerulonephritis Rickets Anterior beaking of lumbar vertebrae Abnormality of the voice Hypokalemia Abnormality of epiphysis morphology Hypercalciuria Aspartylglucosaminuria Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Azoospermia Aminoaciduria Nephrocalcinosis Skin ulcer Clonus Congenital glaucoma Large for gestational age Patent ductus arteriosus Pituitary prolactin cell adenoma Weight loss Cerebral cortical atrophy Dementia Tremor Ataxia Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Deep plantar creases High forehead Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Gait ataxia Difficulty walking Broad foot Memory impairment Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Psychosis Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Urinary incontinence Mental deterioration Neutropenia Hepatic steatosis Nephropathy Hemolytic anemia Abnormality of skin pigmentation Retinal degeneration Unsteady gait Confusion Lower limb muscle weakness Lethargy Retinopathy Abnormal toenail morphology Growth hormone excess Hemiplegia Patent foramen ovale Ascending aortic dissection Arterial tortuosity Graves disease Cleft soft palate Broad face Hiatus hernia Soft skin Long palpebral fissure Celiac disease Cerebral hemorrhage Atrioventricular block Bilateral coxa valga Blue sclerae Syncope Bifid uvula Bruising susceptibility Arthrogryposis multiplex congenita Small for gestational age Abnormal cardiac septum morphology Proptosis Brachycephaly Midface retrusion Arterial dissection Cervical spine instability Palpebral edema Hoarse voice Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Growth abnormality Cerebral palsy Widely spaced teeth Acanthosis nigricans Abnormality of the fingernails Generalized hirsutism Thickened skin Increased arm span Thick lower lip vermilion Migraine Tapered finger Wide nose Synophrys Hypertrophic cardiomyopathy Arthralgia Diabetes mellitus Hyperhidrosis Fatigue Neoplasm Slurred speech Apathy Hypospadias Arachnoid cyst Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Hypoplasia of the musculature Pneumothorax Low back pain Pulmonary edema Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Hypoplasia of the iris Tricuspid valve prolapse Subarachnoid hemorrhage Megalocornea Dilatation of the cerebral artery Striae distensae Slender finger Restrictive ventilatory defect Emphysema Rocker bottom foot Epiphora Hammertoe Endocarditis Dural ectasia Congenital contracture Mitral annular calcification Obesity Immunodeficiency Intellectual disability, mild Atrial septal defect Short neck Optic atrophy Intrauterine growth retardation Epicanthus Inferior oblique muscle overaction Medial rotation of the medial malleolus Pulmonary artery dilatation Protrusio acetabuli Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Hypopnea Premature osteoarthritis Heart murmur Aortic aneurysm Thromboembolism Delirium Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Abnormality of macular pigmentation Pain Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thyroglossal cyst Peripheral neuropathy Redundant skin Polyneuropathy Back pain Spontaneous abortion Elbow flexion contracture Decreased body weight Abnormal lung morphology Cardiomegaly Abnormality of the cardiovascular system Esotropia Dental malocclusion Chest pain Retinal detachment Myopia High, narrow palate Peripheral axonal neuropathy Stroke Hyperlordosis Apnea Joint laxity Pes cavus Visual loss Clinodactyly Edema Abnormality of the skeletal system Abnormal heart valve morphology



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