Flexion contracture, and Autism

Diseases related with Flexion contracture and Autism

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

Top matches:

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

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

While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Other less relevant matches:

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Low match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Low match ALG13-CDG

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Top 5 symptoms//phenotypes associated to Flexion contracture and Autism

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Autistic behavior

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, severe Hypertelorism Delayed speech and language development Arthrogryposis multiplex congenita Strabismus Failure to thrive Feeding difficulties Long face Growth delay Macrotia Macrocephaly Ataxia Hyperactivity Microretrognathia Developmental regression Abnormal facial shape Spasticity Intellectual disability, mild Low-set ears

Rare Symptoms - Less than 30% cases

Highly arched eyebrow Thick eyebrow Poor speech Narrow mouth Cryptorchidism Absent speech Kyphosis Brachycephaly Talipes equinovarus Hypertonia Atrial septal defect Abnormality of the skeletal system Nystagmus Encephalopathy Downslanted palpebral fissures Long philtrum Epileptic encephalopathy Hypoplasia of the corpus callosum Tetraplegia Prominent nasal bridge Decreased body weight High palate Sleep disturbance Dysphasia Decreased muscle mass Adducted thumb Stereotypy Long nose Hydrocephalus EEG abnormality Cerebral cortical atrophy Dystonia Hepatomegaly Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Behavioral abnormality Gastroesophageal reflux Ventriculomegaly Hyperreflexia Pointed chin Ptosis Cataract Cognitive impairment Hammertoe Hip dysplasia Hip dislocation Arrhythmia Intellectual disability, moderate Muscular hypotonia Hearing impairment Deeply set eye Abnormality of the foot Infantile spasms Aplasia/Hypoplasia of the corpus callosum Drooling Infantile muscular hypotonia Abnormality of the eye Mutism Mandibular prognathia Hyperkinesis Intellectual disability, progressive Cachexia Abnormality of the thorax Global brain atrophy Gait ataxia Abnormality of brain morphology Pectus excavatum Poor eye contact Narrow face Abnormality of eye movement Generalized-onset seizure Joint hyperflexibility Unsteady gait Type I transferrin isoform profile Narrow chest Urinary incontinence Self-mutilation Neuronal loss in central nervous system Ophthalmoplegia Truncal ataxia Intellectual disability, profound Open mouth Aplasia/Hypoplasia of the cerebellum Severe global developmental delay Postnatal microcephaly Clonus Feeding difficulties in infancy Involuntary movements Short chin Poor head control Visual impairment Abnormal heart morphology Retrognathia Abnormality of the pinna Protruding ear Abnormal cardiac septum morphology Cerebral atrophy Anteverted nares Optic atrophy Arachnodactyly Coarse facial features Inability to walk Tapered finger Long palpebral fissure Overlapping toe Flat occiput Sacral dimple Long eyelashes Broad thumb Spastic tetraplegia Recurrent infections Abnormal pyramidal sign Bowel incontinence Conspicuously happy disposition Horizontal nystagmus Slender finger Atrophy/Degeneration affecting the brainstem Cerebral visual impairment Dyslexia Abnormality of the nose Clumsiness Happy demeanor Inappropriate laughter Photosensitive tonic-clonic seizures Small hand Loss of ability to walk in first decade Motor delay Wide nasal bridge Hypsarrhythmia Abnormality of extrapyramidal motor function Intrauterine growth retardation Short neck Delayed myelination Abnormal bleeding Broad forehead Acrocyanosis Cerebellar atrophy Small for gestational age Anosmia Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Elevated levels of phytanic acid Wide mouth Short philtrum Thick vermilion border Rhizomelia Short palpebral fissure Cerebral palsy Wide nasal base Prominent nasal tip Decreased palmar creases Frontal bossing Hypospadias Glaucoma Specific learning disability Sensorimotor neuropathy Progressive visual loss Hallucinations Cardiomyopathy Syndactyly Camptodactyly Narrow philtrum Camptodactyly of finger Absence seizures Knee dislocation Atypical absence seizures Sensorineural hearing impairment Peripheral neuropathy Blindness Polyneuropathy Congestive heart failure Visual loss Pes cavus Rod-cone dystrophy Skeletal dysplasia Retinopathy Nyctalopia Congenital cataract Ichthyosis Tetralogy of Fallot Schizophrenia Dysphagia Otitis media Upslanted palpebral fissure Pes planus Telecanthus Craniosynostosis Blepharophimosis Microtia Joint hypermobility Broad nasal tip Hypertrichosis Constipation Recurrent otitis media Hoarse voice Obsessive-compulsive behavior Toe walking Hyperventilation Microtia, first degree Tall chin Pain Skeletal muscle atrophy Posteriorly rotated ears Midface retrusion Relative macrocephaly Arnold-Chiari malformation Constrictive median neuropathy Muscle weakness Respiratory insufficiency Abnormality of the dentition Depressivity Clinodactyly of the 5th finger Joint stiffness Abnormality of movement Apraxia Abnormality of the metacarpal bones Diarrhea Self-injurious behavior Hemiplegia/hemiparesis Abnormality of the skull Abnormality of the antihelix Narrow foot Thin fingernail Epicanthus Brachydactyly Myopia Abnormality of lateral ventricle


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