Arthritis, and Bifid uvula

Diseases related with Arthritis and Bifid uvula

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


Top matches:

Medium match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

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

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Other less relevant 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 MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

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 VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Low match MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9


MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

Top 5 symptoms//phenotypes associated to Arthritis and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hearing impairment Arthralgia Mitral valve prolapse Midface retrusion Malar flattening Myopia Pierre-Robin sequence Hernia Arachnodactyly Pectus carinatum Retrognathia Hypertelorism Rheumatoid arthritis Ventricular septal defect Retinal detachment Ectopia lentis Graves disease Proptosis Inguinal hernia Posteriorly rotated ears Patent ductus arteriosus Atrial septal defect Ptosis Spina bifida Muscular hypotonia Soft skin Hydrocephalus Global developmental delay Intellectual disability Unilateral renal agenesis Psoriasiform dermatitis Bruising susceptibility Exotropia Joint hypermobility Depressed nasal bridge Dilatation Anemia Arnold-Chiari malformation Recurrent infections Sensorineural hearing impairment Cataract Bicuspid aortic valve Anteverted nares Pectus excavatum Cognitive impairment

Rare Symptoms - Less than 30% cases


Strabismus Platyspondyly Abnormal facial shape Low-set ears Delayed speech and language development Fever Hypoparathyroidism Short neck Bipolar affective disorder Vitiligo Frontal bossing Autoimmune thrombocytopenia Depressivity Posterior embryotoxon Abnormality of the skeletal system Meningocele Microcephaly Truncus arteriosus Juvenile rheumatoid arthritis Right aortic arch Perimembranous ventricular septal defect Interrupted aortic arch Aplasia of the uterus Abnormality of the sternum Seborrheic dermatitis Aortic root aneurysm Myelomeningocele Spondylolisthesis Cleft soft palate Seizures Arterial tortuosity Congenital cataract Ascending aortic dissection Submucous cleft hard palate High myopia Autoimmune hemolytic anemia Chorea Tetralogy of Fallot Amenorrhea Abnormal heart morphology Growth delay Specific learning disability Renal agenesis Myopathic facies Hypothyroidism Primary amenorrhea Hypospadias Hemolytic anemia Bulbous nose Umbilical hernia Craniosynostosis Autoimmunity Abnormality of the pinna Low posterior hairline Obesity Inflammation of the large intestine Abnormality of cardiovascular system morphology Otitis media Blepharophimosis Acne Hypoplasia of the corpus callosum Recurrent otitis media Behavioral abnormality Immunodeficiency Amblyopia Renal dysplasia Cholelithiasis Thrombocytopenia Nasal speech Schizophrenia Vitreoretinopathy Purpura Hypocalcemia Joint contracture of the hand Blue sclerae Impaired T cell function Joint laxity Arthropathy Sacral meningocele Right aortic arch with mirror image branching Glossoptosis Exostoses Generalized hypotonia Abnormal vitreous humor morphology Flexion contracture Downslanted palpebral fissures Glaucoma Talipes equinovarus Vesicoureteral reflux Mitral regurgitation Brachycephaly Kyphoscoliosis Pes planus Arteria lusoria Hiatus hernia Duodenal stenosis Long philtrum Retinal vascular tortuosity Abnormality of the kidney Conotruncal defect Dolichocephaly Velopharyngeal insufficiency Atrophic scars Pain Aplasia of the thymus Abnormality of the thymus Pulmonic stenosis Vascular tortuosity Anal atresia Perisylvian polymicrogyria Dysmetria Abnormality of the middle ear Alcoholism Femoral hernia Hypoplasia of the thymus Underdeveloped nasal alae Anterior segment developmental abnormality Tetany Esophoria Hyperactivity Mental deterioration Abnormal joint morphology Foot pain Abnormality of the acetabulum Heparan sulfate excretion in urine Abnormality of the skin Kyphosis Enlarged epiphyses Intellectual disability, severe Cerebellar atrophy Premature osteoarthritis Epiphyseal dysplasia Aggressive behavior Absent speech Abnormality of the eye Type I truncus arteriosus Parathyroid agenesis Dementia Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Conductive hearing impairment Anxiety Sclerocornea Narrow palpebral fissure Peripheral demyelination Vascular ring Narrow mouth Microphthalmia Hypertonia Neoplasm Anal stenosis Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Hearing abnormality Delusions Hydronephrosis Central nervous system degeneration Echolalia Abnormality of the endocrine system Pulmonary artery atresia Psychotic episodes Giant platelets Paranoia Bicuspid pulmonary valve Platybasia Mood swings Axonal loss Basal ganglia calcification Broad thumb Astigmatism Psychosis Short palpebral fissure Coarctation of aorta Open mouth High, narrow palate Hallucinations Iris coloboma Multicystic kidney dysplasia Polymicrogyria Holoprosencephaly Abnormality of the hand Abnormality of the ear Generalized tonic-clonic seizures Microtia Dysdiadochokinesis Apathy Short philtrum Obsessive-compulsive behavior Attention deficit hyperactivity disorder Hypoplasia of the brainstem Cleft lip Telecanthus Biconvex vertebral bodies Irregular distal femoral epiphysis Generalized arterial tortuosity Congenital adrenal hyperplasia Neonatal hypotonia Hyporeflexia Motor delay Quadricuspid aortic valve Premature arteriosclerosis Ambiguous genitalia, female Arteriosclerosis Small for gestational age Rectal prolapse Poor wound healing Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Abnormal cardiac septum morphology Arthrogryposis multiplex congenita Adrenal hypoplasia Decreased muscle mass Arterial dissection Broad face Aortic dissection Long palpebral fissure Celiac disease Reduced subcutaneous adipose tissue Cerebral hemorrhage Smooth philtrum Patent foramen ovale Atrioventricular block Aortic regurgitation Tall stature Overgrowth Syncope Long face Adrenal hyperplasia Hyperextensible skin Cervical spine instability Renal cyst Elevated serum creatinine Gout Hyperuricemia Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Neutropenia Spondyloepiphyseal dysplasia Hematuria Nephropathy Postnatal growth retardation Proteinuria Polydactyly Intrauterine growth retardation Hypertension Retinopathy Long fingers Spina bifida occulta Stroke Thin skin Ambiguous genitalia Gastrointestinal hemorrhage Single transverse palmar crease Sensory neuropathy Joint hyperflexibility Scarring Abnormal metacarpal morphology Myalgia Proximal muscle weakness Arrhythmia Fatigue Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Bilateral coxa valga Increased arm span Descending thoracic aorta aneurysm Thin vermilion border Microretrognathia Joint dislocation Finger clinodactyly Eczema Postaxial hand polydactyly Asthma Facial asymmetry Hallux valgus Broad forehead Camptodactyly Skeletal dysplasia Clinodactyly of the 5th finger Clinodactyly Small distal femoral epiphysis Meningeal calcification Aortic aneurysm Disproportionate tall stature Wide tufts of distal phalanges Thoracic aortic aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Long thorax Dural ectasia Unilateral ptosis Ascending tubular aorta aneurysm Rhinitis Dermal translucency Long toe Sagittal craniosynostosis High anterior hairline Narrow nose Scaphocephaly Dilatation of the cerebral artery Small proximal tibial epiphyses Irregular proximal tibial epiphyses Nystagmus Genu valgum Thick lower lip vermilion Cerebral calcification Esotropia Ectodermal dysplasia Hypoplasia of the maxilla Flat face Hypotrichosis Hypohidrosis Sparse hair Hyperhidrosis Short nose Abnormality of the dentition Wide nasal bridge Epicanthus Visual impairment Sparse scalp hair Sparse and thin eyebrow Macrodontia of permanent maxillary central incisor Concave nasal ridge Calcification of falx cerebri Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Hypoplastic ilia Coxa valga Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Aplasia cutis congenita Thickened calvaria Sparse eyebrow Sparse eyelashes Keratan sulfate excretion in urine



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