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:
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:
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
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
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
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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