Hypertelorism, and Autism

Diseases related with Hypertelorism and Autism

In the following list you will find some of the most common rare diseases related to Hypertelorism 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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Other less relevant matches:

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL 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

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Delayed speech and language development Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Downslanted palpebral fissures Microcephaly Ptosis Behavioral abnormality Brachycephaly Low-set ears Macrocephaly Obesity Intellectual disability, mild High palate Strabismus Attention deficit hyperactivity disorder Nystagmus Short nose Abnormal facial shape Aggressive behavior Short stature Pointed chin

Rare Symptoms - Less than 30% cases

Deeply set eye Motor delay Upslanted palpebral fissure Retrognathia Synophrys Long face EEG abnormality Thin upper lip vermilion Absent speech Midface retrusion Hyperactivity Prominent nose Wide mouth Broad forehead Everted lower lip vermilion Anxiety Wide nose Hearing impairment Broad nasal tip Short palm Smooth philtrum Falls Short foot Unsteady gait Misalignment of teeth Intrauterine growth retardation Abnormality of the nervous system Tapered finger Elevated serum creatine phosphokinase Tremor Growth delay Full cheeks Round face Pain Frequent falls Microretrognathia Polyphagia Narrow nose Intention tremor Duplication of thumb phalanx Cupped ear Intellectual disability, moderate Large forehead Delayed ability to walk Language impairment Relative macrocephaly Delayed gross motor development Drooling Stereotypy Open mouth Apraxia Delayed myelination Poor speech Irritability Prominent forehead Mildly elevated creatine phosphokinase Failure to thrive Prominent nasal bridge Mild microcephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Highly arched eyebrow Thick eyebrow Developmental regression Coarse facial features Kyphosis Hydrocephalus Scoliosis Impaired social interactions Bulbous nose Hypospadias Macrotia Dental crowding Hepatosplenomegaly Pneumonia Recurrent infections Immunodeficiency Long philtrum Frontal bossing Fever Depressed nasal bridge Neoplasm Narrow palate Cafe-au-lait spot Dolichocephaly Decreased antibody level in blood Mood swings Esophagitis Prominent supraorbital ridges Tall stature Sleep disturbance Pes planus Constipation Atrial septal defect Narrow philtrum Camptodactyly Syndactyly Intellectual disability, severe Lymphadenopathy Pancytopenia Clinodactyly of the 5th finger Facial asymmetry Abnormality of cardiovascular system morphology Myopia Epicanthus Muscular hypotonia Pineal cyst Truncus arteriosus Shawl scrotum Absent thumb Horizontal nystagmus Cerebral visual impairment Short thumb Abnormal cardiac septum morphology Lymphopenia Abnormality of the kidney Micropenis Patent ductus arteriosus Visual impairment Feeding difficulties Cryptorchidism Micrognathia Postnatal macrocephaly Increased head circumference Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Speech apraxia


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