Delayed speech and language development, and Heterotopia

Diseases related with Delayed speech and language development and Heterotopia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Heterotopia that can help you solving undiagnosed cases.


Top matches:

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Strabismus
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MONDO UMLS DOID

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Medium match PORETTI-BOLTSHAUSER SYNDROME; PTBHS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

PORETTI-BOLTSHAUSER SYNDROME; PTBHS Is also known as ;poretti-boltshauser syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO UMLS ORPHANET OMIM

More info about PORETTI-BOLTSHAUSER SYNDROME; PTBHS

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Other less relevant matches:

Medium match LISSENCEPHALY 3; LIS3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO MESH NCIT OMIM

More info about LISSENCEPHALY 3; LIS3

Medium match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: MONDO OMIM MESH UMLS

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MONDO UMLS OMIM MESH

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Medium match MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP Is also known as polymicrogyria with seizures;pmgys;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: MONDO OMIM GARD ORPHANET

More info about MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

Medium match 6Q TERMINAL DELETION SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q TERMINAL DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Heterotopia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Heterotopia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases


Polymicrogyria

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Intellectual disability, severe Microcephaly Abnormal facial shape Autosomal recessive inheritance Cortical dysplasia Ataxia Hearing impairment Motor delay Lissencephaly Generalized hypotonia Micrognathia Abnormal corpus callosum morphology Growth delay Short stature Abnormal pyramidal sign Pachygyria Congenital onset

Rare Symptoms - Less than 30% cases


Hyperactivity Hemiparesis Periventricular gray matter heterotopia EEG abnormality Abnormality of neuronal migration Hypospadias Failure to thrive Hypertelorism Inability to walk Wide nasal bridge Intellectual disability, moderate Dysarthria Sloping forehead Tetraparesis Intellectual disability, progressive Spastic tetraparesis Short foot Plagiocephaly Dysmetria Cryptorchidism Flexion contracture Short nose Gait ataxia Cerebellar atrophy Intrauterine growth retardation Ventriculomegaly Cerebellar vermis hypoplasia Hypoplasia of the brainstem Abnormality of the periventricular white matter Myopia Nystagmus Hypsarrhythmia Feeding difficulties Dilatation Agenesis of corpus callosum Muscular hypotonia of the trunk Abnormality of the cerebral white matter Cerebellar dysplasia Protruding ear Prominent metopic ridge Autism Sporadic Prominent forehead Short philtrum Coloboma Attention deficit hyperactivity disorder Hallux valgus Broad forehead Autistic behavior Thick eyebrow Macrotia Encephalopathy Broad philtrum Short corpus callosum Cardiorespiratory arrest Respiratory arrest Aplasia/Hypoplasia of the ribs Gray matter heterotopias Abnormality of the spinal cord Talipes calcaneovalgus Colpocephaly Myoclonus Low-set ears Depressed nasal bridge Brachydactyly Downslanted palpebral fissures Anteverted nares Infantile muscular hypotonia Upslanted palpebral fissure Iris coloboma Generalized myoclonic seizures Downturned corners of mouth Periventricular white matter hyperdensities Periventricular leukomalacia Hypermetropia Dolichocephaly Happy demeanor Hemiclonic seizures Severe failure to thrive Low-set, posteriorly rotated ears Poor eye contact Joint laxity Scoliosis Macrocephaly Short neck Intellectual disability, mild Hyperkeratosis Obesity Large earlobe Highly arched eyebrow Everted lower lip vermilion Epileptic encephalopathy Phimosis Convex nasal ridge Clinodactyly Febrile seizures Open mouth Gynecomastia Low anterior hairline High, narrow palate Absence seizures Short palpebral fissure Wide intermamillary distance Thick vermilion border Tented upper lip vermilion Short chin Infantile spasms Duodenal atresia Hyporeflexia Mild short stature Congenital microcephaly Tetraplegia Focal seizures Spastic tetraplegia Cortical visual impairment Intellectual disability, profound Hemianopia Esodeviation Hypertonia Hyperreflexia Long philtrum Abnormality of the genital system Aggressive behavior Thick lower lip vermilion Decreased fetal movement Blindness Retinal thinning Cortical gyral simplification Abnormality of eye movement Arrhythmia Microphthalmia Abnormal cerebellum morphology Retinal dysplasia Muscle weakness Elevated serum creatine phosphokinase Retinal dystrophy Dilated fourth ventricle High myopia Apraxia Amblyopia Oculomotor apraxia Retinal atrophy Abnormally large globe Cerebellar cyst Impulsivity Maternal diabetes Multiple joint contractures Aplasia of the inferior half of the cerebellar vermis Truncal ataxia Dysdiadochokinesis Global brain atrophy Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Brain atrophy Pica Spasticity Severe short stature Craniosynostosis Poor speech Ectopic kidney Unilateral renal agenesis Intention tremor Small hand Schizencephaly Sensorineural hearing impairment Cleft palate Optic atrophy Syndactyly Toe syndactyly Bifid uvula 2-3 toe syndactyly Cognitive impairment Hirsutism Tics Infantile onset Tremor Kyphosis Micropenis Coarse facial features Short palm Abnormality of the cerebral cortex



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