Abnormal facial shape, and Dysarthria

Diseases related with Abnormal facial shape and Dysarthria

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


Top matches:

Low match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Low 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

Low match FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

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Other less relevant matches:

Low match X-LINKED RETICULATE PIGMENTARY DISORDER


X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Low match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Low match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia 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 Dysarthria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Cerebellar atrophy Generalized hypotonia Dystonia Progressive cerebellar ataxia EEG abnormality Cognitive impairment Microcephaly Hypertelorism Apraxia

Rare Symptoms - Less than 30% cases


Dysdiadochokinesis Status epilepticus Neurological speech impairment Generalized myoclonic seizures Intellectual disability, mild Choreoathetosis Generalized-onset seizure Babinski sign Gait ataxia Severe global developmental delay Infantile spasms Lissencephaly Epileptic spasms Narrow forehead Growth delay Tremor Rigidity Developmental regression Clumsiness Facial asymmetry Hyperreflexia Abnormal cerebellum morphology Polymicrogyria Intellectual disability, moderate Intellectual disability, severe Inability to walk Motor delay Dysmetria Tip-toe gait Hand clenching Pachygyria Heterotopia Spontaneous abortion Abnormality of neuronal migration Intellectual disability, profound Microphallus Sloping forehead Brachydactyly Bulbous nose Nasal speech Small hand Short metacarpal Hypsarrhythmia High palate Paraparesis Short chin Spastic paraparesis Craniofacial disproportion Cone-shaped epiphysis Postnatal growth retardation Enuresis Oval face Type I lissencephaly Enuresis nocturna Ptosis Agenesis of corpus callosum Micropenis Muscular hypotonia of the trunk Agyria Supranuclear gaze palsy Subependymal nodules Intention tremor Papule Ophthalmoplegia Abnormality of movement Dry skin Peripheral axonal neuropathy Abnormality of the skin Hypotension Hypohidrosis Erythema Limb ataxia Fasciculations Macular degeneration Urticaria Macule Orthostatic hypotension Abnormality of the musculature Impaired smooth pursuit Abnormal pyramidal sign Hyperkeratosis Visual impairment Osteopenia Wide nasal bridge Myopia Optic atrophy Anteverted nares Cerebellar hypoplasia Prominent forehead Osteoporosis Poor coordination Poor speech Constipation Unsteady gait Hip dysplasia Cerebral visual impairment Infantile muscular hypotonia Brisk reflexes Strabismus Gait disturbance Hyporeflexia Myokymia Cogwheel rigidity Blurred vision Agnosia Epileptic encephalopathy Hemiparesis Language impairment Dysphasia Aphasia Speech apraxia Perisylvian polymicrogyria Oromotor apraxia Focal-onset seizure EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Muscular hypotonia Abnormality of the skeletal system Abnormality of metabolism/homeostasis Coarse facial features Generalized tonic-clonic seizures Febrile seizures Urinary incontinence Exotropia Oculomotor apraxia Depressed nasal bridge Macrocephaly Frontal bossing Polydactyly Postaxial polydactyly Cerebellar vermis hypoplasia Tall stature Large for gestational age Attention deficit hyperactivity disorder Molar tooth sign on MRI Elongated superior cerebellar peduncle Behavioral abnormality Encephalopathy Hyperactivity Autism Autistic behavior Tetraparesis Spastic tetraparesis Calf muscle hypertrophy Kyphoscoliosis Stuttering Grasp reflex Scoliosis Respiratory distress Hypertonia Headache Hyperhidrosis Vertigo Focal dystonia Nausea Postural instability Muscle cramps Specific learning disability Diplopia Muscle stiffness Myotonia Hydranencephaly Limb dystonia Athetosis Absent speech Thickened calvaria Visceromegaly Vacuolated lymphocytes Oligosacchariduria Aspartylglucosaminuria Dysphagia Cerebral atrophy Facial palsy Lower limb spasticity Esotropia Loss of speech Corpus callosum atrophy Flexion contracture Feeding difficulties Wide mouth Triangular face Short palpebral fissure Supranuclear ophthalmoplegia



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