Hypertelorism, and Behavioral abnormality

Diseases related with Hypertelorism and Behavioral abnormality

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

Top 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

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

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

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 Behavioral abnormality

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
Delayed speech and language development Common - Between 50% and 80% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Aggressive behavior Pointed chin Obesity Generalized hypotonia Microcephaly Autism Intellectual disability, moderate Wide nose Short stature Autistic behavior Anxiety

Rare Symptoms - Less than 30% cases

Smooth philtrum Long face Thin upper lip vermilion Strabismus Micrognathia Depressed nasal bridge Wide nasal bridge Broad forehead Absent speech Short nose Prominent nose Poor speech Wide mouth Macrocephaly Hyperactivity Abnormal facial shape Muscular hypotonia Depressivity Pectus excavatum Short philtrum Dolichocephaly Short chin Truncal obesity Overweight Polyphagia Frontal bossing Broad eyebrow Abnormality of cardiovascular system morphology Kyphosis Long eyebrows Everted lower lip vermilion Scoliosis Pectus carinatum Anodontia Tapered finger Delayed myelination Large forehead Delayed ability to walk Language impairment Relative macrocephaly Delayed gross motor development Drooling Stereotypy Open mouth Apraxia Broad nasal tip Psychosis Attention deficit hyperactivity disorder Irritability Retrognathia Prominent forehead Failure to thrive Nystagmus Bimanual synkinesia Bipolar affective disorder Large hands Oligodontia Malar flattening High palate Cortical gyral simplification Esophagitis Feeding difficulties Cryptorchidism Narrow philtrum Camptodactyly Deeply set eye Syndactyly Intellectual disability, severe Mood swings Intellectual disability, mild Thin vermilion border Ptosis Hearing impairment Prominent supraorbital ridges Tall stature Sleep disturbance Pes planus Constipation Atrial septal defect Fine hair Highly arched eyebrow Impulsivity Upslanted palpebral fissure Cerebellar vermis hypoplasia Sloping forehead Thick eyebrow Synophrys Ventriculomegaly Sandal gap Narrow palpebral fissure Downturned corners of mouth Clinodactyly Triangular face Long philtrum Epicanthus Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Obsessive-compulsive behavior Nephrocalcinosis Generalized-onset seizure Focal-onset seizure Speech apraxia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Umbilical hernia, related diseases and genetic alterations Delayed speech and language development and Hip dysplasia, related diseases and genetic alterations Macrocephaly and Hypopigmentation of the skin, related diseases and genetic alterations High palate and Finger syndactyly, related diseases and genetic alterations Muscle weakness and Splenomegaly, related diseases and genetic alterations