Arthritis, and Autism

Diseases related with Arthritis and Autism

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


Top matches:

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

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

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

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Other less relevant matches:

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN


Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Low match AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME


SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Low match CHROMOSOME 2P16.3 DELETION SYNDROME


Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about CHROMOSOME 2P16.3 DELETION SYNDROME

Low match MENTAL RETARDATION, X-LINKED 104; MRX104


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Behavioral abnormality
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 104; MRX104

Low match ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD


A behavior disorder in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.

ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD Is also known as hyperactivity of childhood

Related symptoms:

  • Depressivity
  • Hyperactivity
  • Autism
  • Anxiety
  • Attention deficit hyperactivity disorder


SOURCES: OMIM MENDELIAN

More info about ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

Low match AUTISM, SUSCEPTIBILITY TO, 15; AUTS15


Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Atrial septal defect
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 15; AUTS15

Low match AUTISM, SUSCEPTIBILITY TO, 17; AUTS17


Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Atrial septal defect
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 17; AUTS17

Top 5 symptoms//phenotypes associated to Arthritis and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Short stature Hypertelorism Epicanthus Atrial septal defect

Rare Symptoms - Less than 30% cases


Asthma Overfolded helix Muscular hypotonia Anxiety Strabismus Attention deficit hyperactivity disorder Depressivity Behavioral abnormality Scoliosis Long face Hypothyroidism Intellectual disability, severe Downslanted palpebral fissures Cryptorchidism Hypospadias Obesity Midface retrusion Schizophrenia Malar flattening Low-set ears Hyperactivity Abnormality of the skeletal system Intrauterine growth retardation Intellectual disability, mild Abnormal eyelid morphology Varicose veins Atelectasis Truncus arteriosus Seborrheic dermatitis Abnormality of the uterus Corneal neovascularization Hypoplasia of the thymus Tetany Chronic obstructive pulmonary disease Foot polydactyly Meningocele Acne Hypopigmented skin patches Laryngomalacia Nasal speech Polycystic kidney dysplasia Cholelithiasis Hand polydactyly Abnormality of the thorax Chronic otitis media Dysphasia Abnormality of the skull Bowel incontinence Hyperthyroidism Posterior embryotoxon Abnormal lung lobation Bipolar affective disorder Turricephaly Hypoparathyroidism Patellar dislocation Multiple renal cysts Abnormal thrombocyte morphology Hypertensive crisis Abnormal aortic valve morphology Hip dislocation Joint hypermobility Everted lower lip vermilion Blue sclerae Cupped ear Generalized hypotonia Flexion contracture Intellectual disability, moderate Camptodactyly of finger Arthrogryposis multiplex congenita Thin upper lip vermilion Hip dysplasia Absence seizures Microretrognathia Hammertoe Knee dislocation Atypical absence seizures Absent speech Falls Impulsivity Joint laxity Retrognathia Abnormality of the pharynx Abnormal aortic arch morphology Small earlobe Platybasia Arrhinencephaly Impaired T cell function Abnormal pulmonary valve morphology Anorectal anomaly Retinal arteriolar tortuosity Abnormality of dental enamel Multiple suture craniosynostosis Cerebellar atrophy Tricuspid atresia Abnormality of the tonsils Occipital myelomeningocele Syndactyly Deeply set eye Camptodactyly Pointed chin Narrow philtrum Hypoplasia of the corpus callosum Purpura Carious teeth Hypocalcemia Blue irides Short metatarsal Cone-shaped epiphysis Mild short stature Congenital hypothyroidism Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Fair hair Accelerated skeletal maturation Red hair Chronic rhinitis Hearing impairment Failure to thrive Micrognathia Abnormal facial shape Cleft palate Cataract Increased intracranial pressure Type I diabetes mellitus Wide nasal bridge Mandibular prognathia Growth delay Depressed nasal bridge Hypertension Brachydactyly Anteverted nares Short nose Clinodactyly of the 5th finger Diabetes mellitus Skeletal dysplasia Short phalanx of finger Joint stiffness Small hand Hypoplasia of the maxilla Round face Short metacarpal Underdeveloped nasal alae Eczema Osteoarthritis Ptosis Optic atrophy Spina bifida Arachnodactyly Telecanthus Feeding difficulties in infancy Autoimmunity Short philtrum Prominent nasal bridge Joint hyperflexibility Anal atresia Bulbous nose Myalgia Vesicoureteral reflux Intestinal malrotation Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Renal hypoplasia Choanal atresia Aganglionic megacolon Conductive hearing impairment Ventricular septal defect Abnormality of cardiovascular system morphology Talipes equinovarus Short neck Hydrocephalus Abnormality of the dentition Splenomegaly Long philtrum Immunodeficiency Microphthalmia Thrombocytopenia Umbilical hernia Patent ductus arteriosus Inguinal hernia Constipation Upslanted palpebral fissure Glaucoma Narrow mouth Polyhydramnios Gastroesophageal reflux Dyslexia



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