Hypertelorism, and Attention deficit hyperactivity disorder

Diseases related with Hypertelorism and Attention deficit hyperactivity disorder

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


Top matches:

High match WEISSENBACHER- ZWEYMULLER SYNDROME


Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

High match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


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

High match LEGIUS SYNDROME


Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

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Other less relevant matches:

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM 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

High match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

High match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

High match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hypertelorism and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Seizures Thin upper lip vermilion Autism Behavioral abnormality Feeding difficulties Microcephaly Anxiety Downslanted palpebral fissures High palate Absent speech Epicanthus Hypoplasia of the corpus callosum Synophrys Micrognathia Constipation Short neck Narrow mouth Ptosis Low-set ears Midface retrusion Wide nasal bridge Depressed nasal bridge Failure to thrive Myopia Prominent forehead Short nose Poor speech Macrocephaly Broad forehead

Rare Symptoms - Less than 30% cases


Obesity High forehead Recurrent infections Wide nose Immunodeficiency Long philtrum Frontal bossing Spasticity Autistic behavior Decreased antibody level in blood Neoplasm Delayed ability to walk Muscular hypotonia Delayed gross motor development Aggressive behavior Strabismus Hernia Anteverted nares Brachycephaly Motor delay Pointed chin Cafe-au-lait spot Dystonia Large forehead Ataxia Relative macrocephaly Scoliosis Impulsivity Language impairment Gastroesophageal reflux Speech apraxia Hip dysplasia Umbilical hernia Muscle weakness Prominent nasal bridge Short chin Brachydactyly Tapered finger Cerebral atrophy Protruding tongue Dysphagia Inguinal hernia Sleep disturbance Full cheeks Agitation Inverted nipples Growth delay Ventriculomegaly Cerebellar atrophy Clinodactyly of the 5th finger Hirsutism Micropenis Overgrowth Hypoplasia of penis Tall stature Congenital hip dislocation Lissencephaly Large for gestational age Downturned corners of mouth Thick eyebrow Clinodactyly Stereotypy Joint laxity Joint hypermobility Highly arched eyebrow Pachygyria Cortical gyral simplification Atonic seizures IgA deficiency IgG deficiency Bulbous nose Hearing impairment Sensorineural hearing impairment Posteriorly rotated ears Coarse facial features Deeply set eye Abnormality of the pinna Astigmatism Drooling Hypodontia Open mouth Long face Multiple cafe-au-lait spots Freckling Abnormality of the sternum Multiple lipomas Neurofibromas Low posterior hairline Specific learning disability Triangular face High, narrow palate Abnormality of skin pigmentation Low-set, posteriorly rotated ears Narrow palate Dental crowding Dolichocephaly Lisch nodules EEG abnormality Intellectual disability, mild Mild neurosensory hearing impairment Submucous cleft soft palate Abnormality of the mandible Coronal cleft vertebrae Short femur Glossoptosis Metaphyseal widening Rhizomelia Muscular hypotonia of the trunk Conductive hearing impairment Proptosis Cleft palate Neoplasm of the lung Axillary freckling Apraxia Microdontia Delayed myelination Broad nasal tip Irritability Intellectual disability, moderate Retrognathia Nystagmus Thin eyebrow Myopathic facies Eosinophilia Oligodontia Narrow palpebral fissure Short palpebral fissure Hypsarrhythmia Prominent nose Fever Asthma Unsteady gait Hypermetropia Abnormality of the dentition Postnatal macrocephaly Increased head circumference Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Lymphopenia Pancytopenia Lymphadenopathy Hepatosplenomegaly Pneumonia Disproportionate tall stature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Interphalangeal joint contracture of finger, related diseases and genetic alterations Downslanted palpebral fissures and Smooth philtrum, related diseases and genetic alterations Hydrocephalus and Encephalocele, related diseases and genetic alterations Immunodeficiency and Cleft upper lip, related diseases and genetic alterations Breast carcinoma and Generalized tonic-clonic seizures, related diseases and genetic alterations

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