Macrocephaly, and Autism

Diseases related with Macrocephaly and Autism

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

Top matches:

X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).

Related symptoms:

  • Seizures
  • Macrocephaly
  • Behavioral abnormality
  • Autism
  • Aggressive behavior


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED EPILEPSY-LEARNING DISABILITIES-BEHAVIOR DISORDERS SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Other less relevant matches:

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
  • Seizures
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 18; AUTS18

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Autism

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
Generalized hypotonia Common - Between 50% and 80% cases
Autistic behavior Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Motor delay Aggressive behavior Obesity Hyperactivity Prominent supraorbital ridges Attention deficit hyperactivity disorder Downslanted palpebral fissures Hypertelorism Behavioral abnormality Delayed speech and language development Immunodeficiency

Rare Symptoms - Less than 30% cases

Strabismus Short nose Cryptorchidism Apraxia Speech apraxia Nystagmus Intellectual disability, severe Tall stature Deeply set eye Ventriculomegaly Short philtrum Pointed chin Intellectual disability, moderate Prominent forehead Spasticity Focal-onset seizure Long face Stereotypy Ataxia Abnormal facial shape Retrocerebellar cyst Anxiety Poor speech Broad forehead Pneumonia Increased head circumference Depressed nasal bridge Postnatal macrocephaly Fever Hepatosplenomegaly Biparietal narrowing Severe combined immunodeficiency Decreased antibody level in blood Combined immunodeficiency Lymphadenopathy Pancytopenia Long philtrum Recurrent infections Midface retrusion Lymphopenia Thin upper lip vermilion Muscular hypotonia Prominent nose Infra-orbital crease Abnormality of the philtrum Microphallus Enlarged cisterna magna Poor eye contact Long nose External genital hypoplasia Focal impaired awareness seizure Scrotal hypoplasia Intention tremor Cerebellar vermis hypoplasia Hypotelorism Triangular face Cognitive impairment Abnormal cerebellum morphology Dysmetria Neurological speech impairment Neonatal hypotonia Large forehead Macrotia Mandibular prognathia Gait ataxia Micropenis Cerebral cortical atrophy Cerebellar hypoplasia Dilatation Tremor Neoplasm Abnormality of the foot Delayed ability to walk Pes planus Short stature Broad eyebrow Dermal translucency Periorbital fullness Postnatal growth retardation Developmental regression Growth delay Sleep disturbance Wide nose Constipation Hyporeflexia Atrial septal defect Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Megalencephaly Leukoencephalopathy Clumsiness Abnormality of the cerebral white matter Dolichocephaly Specific learning disability Muscle weakness Myoclonus Language impairment Febrile seizures Relative macrocephaly Delayed gross motor development Drooling Open mouth Delayed myelination Broad nasal tip Irritability Retrognathia Failure to thrive Facial asymmetry Brachycephaly Microtia Proptosis Posteriorly rotated ears Absent speech Epicanthus Short upper lip Slender build Facial hypotonia Narrow palate Distal muscle weakness Disorganization of the anterior cerebellar vermis


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