Abnormal facial shape, and Autism

Diseases related with Abnormal facial shape and Autism

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


Top matches:

Medium match SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5


Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Medium match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7


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

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


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

Medium 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

Medium match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Medium match MENTAL RETARDATION, X-LINKED 102; MRX102


An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 102; MRX102

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases
Seizures 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 Abnormal facial shape and Autism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hyperactivity Long face Hypertelorism Motor delay Intellectual disability, mild Microcephaly Behavioral abnormality Aggressive behavior

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Absent speech Pointed chin Scoliosis Febrile seizures Cleft upper lip Cryptorchidism Attention deficit hyperactivity disorder Cleft lip Cleft palate Synophrys EEG abnormality Ventriculomegaly Ptosis Atrial septal defect Macrocephaly Short stature Language impairment Dolichocephaly Hearing impairment Facial asymmetry Precocious puberty Broad-based gait Posteriorly rotated ears Narrow palate Proptosis Cafe-au-lait spot Dental crowding Decreased body weight Tall stature Thin upper lip vermilion Brachycephaly Microtia High palate Abnormality of the foot Low-set ears Downslanted palpebral fissures Polydactyly Upslanted palpebral fissure Prominent supraorbital ridges Bilateral cleft lip Thoracic kyphosis Slender finger Bilateral cleft lip and palate Long toe Preaxial hand polydactyly Spasticity Preaxial polydactyly Nasal speech Pes planus Low posterior hairline Sloping forehead Decreased testicular size Visual impairment Broad nasal tip Hypoplasia of the corpus callosum Oral cleft Dyskinesia Large hands Dysdiadochokinesis Immunodeficiency Esophagitis Dysarthria Cognitive impairment Ataxia Narrow philtrum Camptodactyly Deeply set eye Syndactyly Mood swings Wide mouth Intellectual disability, moderate Heterotaxy Mutism Abnormal heart morphology Feeding difficulties Growth delay Stereotypy Obesity Peripheral demyelination Abnormality of the cerebral white matter Encephalopathy Developmental regression Frontal bossing Dysphasia Epicanthus Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Epileptic spasms Aphasia Hemiparesis Neurological speech impairment Status epilepticus Apraxia Generalized-onset seizure Epileptic encephalopathy Focal-onset seizure Urinary incontinence Progressive cerebellar ataxia Generalized myoclonic seizures Polymicrogyria Cortical dysplasia



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