Arthritis, and Open mouth

Diseases related with Arthritis and Open mouth

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


Top matches:

Low 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

Low 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 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

Mendelian

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

Learn more

Other less relevant matches:

Low match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

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 FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6


MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Low match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Top 5 symptoms//phenotypes associated to Arthritis and Open mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


High palate Microcephaly Abnormal facial shape Micrognathia Inguinal hernia Mandibular prognathia Ventriculomegaly Cryptorchidism Deeply set eye Growth delay Neonatal hypotonia Wide nasal bridge Rheumatoid arthritis Flexion contracture Muscular hypotonia Scoliosis Hearing impairment Nystagmus Failure to thrive Nasal speech Motor delay Gastroesophageal reflux Thin upper lip vermilion Hypoplasia of the brainstem Joint contracture of the hand Intellectual disability, moderate Short philtrum Babinski sign Talipes equinovarus Telecanthus Facial hypotonia Narrow forehead Hypoplasia of the maxilla Small for gestational age Wide mouth Feeding difficulties in infancy Kyphoscoliosis Myopia Hypertelorism Bulbous nose Joint hyperflexibility Hip dislocation Camptodactyly of finger Underdeveloped nasal alae Postnatal growth retardation Short neck Delayed speech and language development Behavioral abnormality Cataract Aggressive behavior Absent speech Cerebellar atrophy Hypothyroidism Thrombocytopenia Fever Cognitive impairment Umbilical hernia Anxiety

Rare Symptoms - Less than 30% cases


Visual impairment Conductive hearing impairment Retrognathia Feeding difficulties Hyperactivity Frontal bossing Interphalangeal joint contracture of finger Triangular face Clinodactyly of the 5th finger Cerebellar hypoplasia Ulnar deviation of the hand or of fingers of the hand Respiratory insufficiency Pes planus Joint laxity Intellectual disability, severe Downturned corners of mouth Wrist swelling Atrial septal defect Retinopathy Anemia Hydrocephalus Posteriorly rotated ears Kyphosis Blindness Abnormality of the skeletal system Malabsorption Intrauterine growth retardation Corneal opacity Abnormality of cardiovascular system morphology Joint stiffness Protruding ear Macrocephaly Hernia Downslanted palpebral fissures Obesity Proteinuria Hypospadias Depressivity Abnormal heart morphology Abnormality of the dentition Joint hypermobility Ptosis Reduced visual acuity Glaucoma Upslanted palpebral fissure Malar flattening Constipation Dilatation Areflexia Microphthalmia Renal insufficiency Long philtrum Hypoplasia of the corpus callosum Prominent nasal bridge Delayed puberty Genu valgum Nephrocalcinosis Hyperreflexia Prominent nose Myopathic facies Low posterior hairline Dysarthria Otitis media Recurrent infections Obsessive-compulsive behavior Hypertonia Neurological speech impairment Ventricular septal defect Poor speech Blepharophimosis Abnormality of the hand Reduced number of teeth Long eyelashes Dental malocclusion Intellectual disability, profound Abnormality of epiphysis morphology Low-set ears Abnormality of the periventricular white matter Aciduria Pulmonic stenosis Waddling gait Smooth philtrum Juvenile rheumatoid arthritis Celiac disease Chorioretinal dysplasia Gait disturbance Hypertension Congenital cataract Gingivitis Small hand Abnormality of the voice Hip contracture Mask-like facies Adducted thumb Spina bifida occulta Rocker bottom foot Knee flexion contracture Slender long bone Atrophy/Degeneration affecting the brainstem Congenital contracture Pterygium Narrow mouth Abnormality of the skin Muscle weakness Hypertensive retinopathy Doll-like facies Metacarpal osteolysis Metatarsal osteolysis Azotemia Carpal osteolysis Osteolysis involving tarsal bones Ulnar deviation of the hand Flat face Epicanthus Myopathy Short nose Abnormality of the wrist Prominent forehead Camptodactyly Arthrogryposis multiplex congenita Talipes Ankle swelling Anal atresia Elevated alkaline phosphatase Macular edema Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Furrowed tongue Hyperplasia of the maxilla Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Microglossia Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Narrow nasal bridge Congenital neutropenia Laryngeal stenosis Cachexia Pes cavus Osteolysis EMG abnormality Malignant hyperthermia Hypotelorism Limitation of joint mobility Nephropathy Stage 5 chronic kidney disease Arthralgia Osteopenia Polyhydramnios Proptosis Slender toe Chorioretinal dystrophy Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Distal arthrogryposis Broad nasal tip Trismus Acetabular dysplasia EMG: myopathic abnormalities Elbow flexion contracture Horizontal nystagmus Pachygyria Macroglossia Lower limb muscle weakness Limb muscle weakness Abnormality of the cerebral white matter Muscular dystrophy Facial palsy Proximal muscle weakness Elevated serum creatine phosphokinase Everted upper lip vermilion Excessive salivation Gowers sign Genu recurvatum Protruding tongue Spastic tetraplegia Febrile seizures Tetraplegia Inability to walk Paraplegia Spastic paraplegia Coarse facial features Dystonia Spasticity Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Abnormal electroretinogram Congenital muscular dystrophy Curved fingers Increased head circumference Limited hip extension Alacrima Corneal scarring Hand clenching Short chin Bradycardia Sensory neuropathy Tachycardia Scarring Apnea Hyperhidrosis Peripheral neuropathy Pain Congenital muscular torticollis Skeletal muscle hypertrophy Pyloric stenosis Tented upper lip vermilion Torticollis Congenital hip dislocation Chronic diarrhea Overgrowth Hypoglycemia Diarrhea Mild myopia Cerebellar cyst Decreased light- and dark-adapted electroretinogram amplitude Achilles tendon contracture Lower limb hyperreflexia Abnormality of neuronal migration Broad fingertip Enlarged naris Breech presentation Hydronephrosis Short thumb Broad thumb Recurrent otitis media Short palpebral fissure Apraxia Coarctation of aorta Hypoplasia of penis Microdontia Truncal obesity Hirsutism Thin vermilion border Hypermetropia Craniosynostosis Cleft palate Finger clinodactyly Delayed skeletal maturation Clinodactyly Headache Intellectual disability, mild Vomiting Brachydactyly Neoplasm Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Generalized hirsutism Abnormality of the fingernails Epididymal cyst 11 pairs of ribs Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Spinal dysraphism Stiff neck Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia Enlarged joints Villous atrophy Trigonocephaly Enuresis Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Short clavicles Proportionate short stature High pitched voice Preauricular pit Impulsivity Clubbing Language impairment Abnormality of the hip bone Highly arched eyebrow Disproportionate tall stature Right aortic arch with mirror image branching Attention deficit hyperactivity disorder Irritability Low-set, posteriorly rotated ears EEG abnormality Patent ductus arteriosus Acidosis Dementia Recurrent respiratory infections Hyporeflexia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Congenital conductive hearing impairment Carious teeth Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Platyspondyly Long face Right aortic arch Subcutaneous nodule Neoplasm of the skin Azoospermia Abnormality of dental enamel Aminoaciduria Narrow palate Skin ulcer Clonus Stereotypy Amblyopia Nephrolithiasis Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Hematuria Osteoarthritis Sparse scalp hair Fine hair Abnormality of the ribs Dehydration Increased serum lactate Full cheeks Abnormal bleeding Recurrent fractures Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Impaired T cell function Mood swings Deep philtrum Hallucinations Abnormality of the pinna Dysdiadochokinesis Cholelithiasis Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Renal dysplasia Apathy Autoimmunity Primary amenorrhea Psychosis Tetralogy of Fallot Peripheral demyelination Amenorrhea Specific learning disability Renal agenesis Vesicoureteral reflux Chorea Bifid uvula Hemolytic anemia Psoriasiform dermatitis Unilateral renal agenesis Platybasia Meningocele Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Hearing abnormality Acne Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Inflammation of the large intestine Mental deterioration Hypercholesterolemia Hypercalciuria Cerebral hemorrhage Abnormality of skin pigmentation Short metacarpal Microcornea Neutropenia Single transverse palmar crease Tapered finger Dysmetria Retinal detachment High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Retinal degeneration Convex nasal ridge Arachnodactyly Astigmatism Synophrys Severe global developmental delay Finger syndactyly Stroke Nyctalopia Paralysis Respiratory tract infection Macrotia Diabetes mellitus Rod-cone dystrophy Growth hormone deficiency Progressive visual loss Pectus excavatum Sandal gap Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Intellectual disability, progressive Pigmentary retinopathy Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Tall stature Clumsiness Lumbar hyperlordosis High myopia Decreased fetal movement Mitral valve prolapse Visual loss Edema Hypokalemia Abnormal joint morphology Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Atypical scarring of skin Patellar dislocation Multiple renal cysts Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Hyperparathyroidism Hyperphosphaturia Pathologic fracture Congenital glaucoma Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Atelectasis Buphthalmos Cardiomyopathy Finger swelling Respiratory distress Optic atrophy Depressed nasal bridge Sensorineural hearing impairment Immunodeficiency Dense posterior cortical cataract Hypoammonemia Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Elevated amniotic fluid alpha-fetoprotein Abnormal pupil morphology Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Blotching pigmentation of the skin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Autistic behavior, related diseases and genetic alterations Intellectual disability, severe and Syncope, related diseases and genetic alterations Fever and Tachycardia, related diseases and genetic alterations Myopathy and Brachydactyly, related diseases and genetic alterations Strabismus and Polydactyly, related diseases and genetic alterations Cataract and Renal hypoplasia, related diseases and genetic alterations Anemia and Dysarthria, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more