Arthritis, and Autism

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.

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

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

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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}.

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

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, X-LINKED 104; MRX104

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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}.

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

SOURCES: OMIM MENDELIAN

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}.

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

SOURCES: OMIM MENDELIAN