Flexion contracture, and Autistic behavior

Diseases related with Flexion contracture and Autistic behavior

In the following list you will find some of the most common rare diseases related to Flexion contracture and Autistic behavior 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

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Other less relevant matches:

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION 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

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

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Autistic behavior

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Delayed speech and language development Hypertelorism Short stature Spasticity Arthrogryposis multiplex congenita Failure to thrive Macrocephaly Hyperactivity Ataxia Behavioral abnormality Strabismus Cataract Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Anxiety Hypertrichosis Relative macrocephaly Arrhythmia Sensorineural hearing impairment Pointed chin Hearing impairment Intellectual disability, moderate Cerebral cortical atrophy Attention deficit hyperactivity disorder Camptodactyly of finger Small for gestational age Short philtrum Downslanted palpebral fissures High palate Apraxia Long face Growth delay Camptodactyly Abnormal facial shape Ptosis Feeding difficulties Abnormality of the skeletal system Atrial septal defect Hypertonia Kyphosis Narrow mouth Thick vermilion border Short palpebral fissure Wide nasal base Talipes equinovarus Brachydactyly Muscular hypotonia Epicanthus Cardiomyopathy Neonatal hypotonia Muscle weakness Microretrognathia Hammertoe Hip dysplasia Hip dislocation Intellectual disability, mild Blepharophimosis Cerebellar hypoplasia Prominent forehead Craniosynostosis Kyphoscoliosis Coarse facial features Abnormality of the cerebral white matter Hepatosplenomegaly Telecanthus Talipes Prominent nasal bridge Inability to walk Delayed eruption of teeth Macroglossia Neuronal loss in central nervous system Microtia Decreased muscle mass Hyperventilation Hoarse voice Anteverted nares Obsessive-compulsive behavior Cerebellar atrophy Long philtrum Cerebral atrophy Absent speech Clinodactyly Joint hypermobility Recurrent otitis media Otitis media Broad nasal tip Microtia, first degree Hyporeflexia Thin upper lip vermilion Babinski sign Dental crowding Pes planus Hemiplegia/hemiparesis Macrotia Toe walking Dystonia Abnormality of the antihelix Acrocyanosis Depressivity Abnormality of the skull Dysphasia Clinodactyly of the 5th finger EEG abnormality Respiratory insufficiency Developmental regression Joint stiffness Abnormality of movement Tetraplegia Stereotypy Arnold-Chiari malformation Abnormality of the metacarpal bones Self-injurious behavior Abnormality of the dentition Hepatomegaly Broad face Hypospadias Broad philtrum Cryptorchidism Frontal bossing Hypoplasia of the corpus callosum Upslanted palpebral fissure Posteriorly rotated ears Constipation Hydrocephalus Glaucoma Narrow foot Gastroesophageal reflux Midface retrusion Diarrhea Specific learning disability Tetralogy of Fallot Hallucinations Myopia Constrictive median neuropathy Thin fingernail Schizophrenia Elevated levels of phytanic acid Nystagmus Hypokinesia Limb-girdle muscular dystrophy Gowers sign Congenital muscular dystrophy Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Calf muscle hypertrophy Generalized amyotrophy Difficulty climbing stairs Spinal rigidity Left ventricular hypertrophy Centrally nucleated skeletal muscle fibers Limb-girdle muscle weakness Type 1 muscle fiber predominance Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Impaired visuospatial constructive cognition Triceps weakness Thigh hypertrophy Easy fatigability Ventricular hypertrophy Short neck Myopathy Syndactyly Deeply set eye Narrow philtrum Absence seizures Knee dislocation Atypical absence seizures Motor delay Respiratory distress Dilatation Lumbar hyperlordosis Elevated serum creatine phosphokinase Abdominal pain Dyspnea Difficulty walking Proximal muscle weakness Myalgia Cough Muscular dystrophy Waddling gait Cleft palate Microphthalmia Decreased palmar creases Calcific stippling Ichthyosis Polyneuropathy Progressive visual loss Rhizomelia Sensorimotor neuropathy Anosmia Distal lower limb amyotrophy Short 5th metacarpal Polyneuritis Nyctalopia Low-set ears Hyperreflexia Brachycephaly Wide mouth Poor speech Thick eyebrow Highly arched eyebrow Cerebral palsy Prominent nasal tip Congenital cataract Retinopathy Low-set, posteriorly rotated ears Hand clenching Coloboma Severe global developmental delay Toe syndactyly Arachnodactyly Interphalangeal joint contracture of finger Long fingers Central apnea Small face Abnormal oral frenulum morphology Skeletal dysplasia Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Cognitive impairment Peripheral neuropathy Blindness Congestive heart failure Visual loss Pes cavus Rod-cone dystrophy Tall chin


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