Dysarthria, and Lissencephaly

Diseases related with Dysarthria and Lissencephaly

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

Top matches:

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

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

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

Other less relevant matches:

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:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

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

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Medium match WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

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

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Top 5 symptoms//phenotypes associated to Dysarthria and Lissencephaly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Lissencephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Pachygyria Delayed speech and language development Heterotopia Generalized hypotonia Tremor Nystagmus Gait ataxia Strabismus Cognitive impairment Motor delay Microcephaly Short stature Muscular hypotonia Absent speech Cerebellar hypoplasia Cerebellar atrophy Polymicrogyria Intellectual disability, severe Intellectual disability, mild Intellectual disability, moderate Depressed nasal bridge Macrocephaly Flexion contracture Hypertelorism

Rare Symptoms - Less than 30% cases

Large for gestational age Micropenis Growth delay Dysdiadochokinesis Hearing impairment Sloping forehead Back pain Kyphosis Hyporeflexia Muscle cramps Abnormal pyramidal sign Slurred speech Tall stature Failure to thrive Cryptorchidism Tetraparesis Spastic tetraparesis Cardiorespiratory arrest Abnormal corpus callosum morphology Abnormality of the pinna Pain Behavioral abnormality Truncal ataxia Agenesis of corpus callosum Dysphagia Progressive cerebellar ataxia Feeding difficulties Intention tremor Dystonia EEG abnormality Dysmetria Neonatal hypotonia Gait disturbance Cataract Poor speech Proximal muscle weakness Headache Depressivity Encephalopathy Cardiac arrest Decreased liver function Clonus Leukodystrophy Exercise intolerance Wide anterior fontanel Arrhythmia Areflexia Anorexia Elevated serum creatine phosphokinase Type I diabetes mellitus Ragged-red muscle fibers Scapular winging Hemiplegia Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Vomiting Polycystic kidney dysplasia Pancreatitis Easy fatigability Poor head control Mutism Diarrhea Renal dysplasia Congestive heart failure Hyperammonemia Left ventricular hypertrophy Increased serum lactate Abnormality of the genital system Lethargy Limb muscle weakness Nausea and vomiting Congenital cataract Difficulty walking Abnormality of the cerebral white matter Acute kidney injury Hypoglycemia Dilated cardiomyopathy Jaundice Abnormality of the liver Respiratory tract infection Hyperlordosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Telecanthus Myalgia Joint hyperflexibility Nausea Cardiomegaly Dyspnea Waddling gait Aciduria Gliosis Respiratory failure Weight loss Generalized muscle weakness Tetraplegia Acidosis Lactic acidosis Renal cyst Coma High forehead Arthralgia Metabolic acidosis Hepatic steatosis Pulmonary hypoplasia Rhabdomyolysis Glutaric aciduria Fatigable weakness Pseudobulbar signs Cerebellar vermis hypoplasia Apraxia Abnormal cerebellum morphology Postaxial polydactyly Polydactyly Frontal bossing Facial tics Atypical absence seizures Molar tooth sign on MRI Perisylvian polymicrogyria Pseudobulbar paralysis Dyslexia Generalized tonic-clonic seizures Paralysis Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Oculomotor apraxia Elongated superior cerebellar peduncle Abnormality of branched chain family amino acid metabolism Kinetic tremor Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Abnormality of the spinocerebellar tracts Abnormality of the substantia nigra Olivopontocerebellar hypoplasia Cerebral white matter atrophy Supranuclear ophthalmoplegia Abnormal cortical gyration Dementia Slow saccadic eye movements Hyperactive deep tendon reflexes Ophthalmoparesis Postural tremor Fasciculations Chorea Parkinsonism Cerebral cortical atrophy Defective dehydrogenation of isovaleryl CoA and butyryl CoA Fatigable weakness of neck muscles Drowsiness Medulloblastoma Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Exercise-induced myalgia Edema Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Myoglobinuria Oliguria Progressive spastic quadriplegia Fatigable weakness of distal limb muscles Glutaric acidemia Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Arthralgia of the hip Personality disorder Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Myopathy Hypoplastic iliac wing Cardiomyopathy Short foot Abnormality of the neck Thoracic kyphosis Thoracic scoliosis Cortical dysplasia Global brain atrophy Intellectual disability, progressive Brain atrophy Small hand Aplasia of the inferior half of the cerebellar vermis Inability to walk Hirsutism Short palm Coarse facial features Hypoplasia of the corpus callosum Sensorineural hearing impairment Subependymal nodules Atrophy of the dentate nucleus Wide nasal bridge Agyria Duodenal atresia Epicanthus Micrognathia Neoplasm Scoliosis Short corpus callosum Gray matter heterotopias Abnormality of the spinal cord Severe failure to thrive Intrauterine growth retardation Ectopic kidney Multiple joint contractures Mild short stature Unilateral renal agenesis Craniosynostosis Severe short stature Hypospadias Type I lissencephaly Microphallus Talipes equinovarus Cogwheel rigidity Babinski sign Abnormality of metabolism/homeostasis Skeletal muscle atrophy Hyperreflexia Grasp reflex Stuttering Hydranencephaly Focal dystonia Abnormality of the eye Limb dystonia Infantile spasms Lower limb spasticity Short palpebral fissure Triangular face Wide mouth Rigidity Pes planus Abnormality of movement Abnormality of neuronal migration Ptosis Spontaneous abortion Intellectual disability, profound Narrow forehead Bulbous nose Severe global developmental delay Postnatal growth retardation Muscular hypotonia of the trunk Nonprogressive cerebellar ataxia Arachnodactyly Gaze-evoked nystagmus Cortical gyral simplification Toe walking Hypoplasia of the brainstem Abnormality of vision Cerebral palsy Broad-based gait Downslanted palpebral fissures Hypertonia Respiratory distress Large earlobe Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Hydrocele testis Teratoma Diastasis recti Down-sloping shoulders Prolactin excess Acute lymphoblastic leukemia Inverted nipples Secondary amenorrhea Absent septum pellucidum Thin nail Galactorrhea Bilateral talipes equinovarus Abnormally low-pitched voice Respiratory insufficiency Fatigue Fever Hepatomegaly Muscle weakness Dysharmonic bone age Flared humeral metaphysis Limited knee extension Prominent fingertip pads Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Limited elbow extension Overlapping toe Long philtrum Macrotia Leukemia Broad forehead Sparse hair Camptodactyly Joint laxity Umbilical hernia Retrognathia Mandibular prognathia Talipes Hyperhidrosis Prominent forehead Pes cavus Delayed skeletal maturation Inguinal hernia Clinodactyly Hernia Platyspondyly Round face Metatarsus adductus Short ribs Flat occiput Radial deviation of finger Large hands Cutis laxa Accelerated skeletal maturation Coxa valga Pointed chin Hoarse voice Lymphoma Joint contracture of the hand Lymphedema Broad thumb Hypertrichosis Fine hair Overgrowth Amenorrhea Nail dysplasia Abnormal cell morphology


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