Dysarthria, and Hypopigmentation of the skin

Diseases related with Dysarthria and Hypopigmentation of the skin

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

Top matches:

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Top 5 symptoms//phenotypes associated to Dysarthria and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Muscular hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Gait disturbance Ataxia Spasticity Cerebellar atrophy Generalized hypotonia Photophobia Malabsorption Gait ataxia Diarrhea Tremor Cognitive impairment Motor delay Ptosis Cataract Hearing impairment Visual impairment Unsteady gait Hypertonia Headache Depressivity Myopia Retinopathy Dementia Confusion Migraine Cerebral atrophy Hemiplegia Mask-like facies Congenital cataract Neurological speech impairment Chronic diarrhea Strabismus Optic atrophy Osteoporosis Dry skin Hyperreflexia Abnormal cerebellum morphology Cerebellar hypoplasia Failure to thrive

Rare Symptoms - Less than 30% cases

Intracranial hemorrhage Dystonia Kyphosis Hypoplasia of the iris Urticaria Visual loss Bilateral ptosis Involuntary movements High, narrow palate Abnormality of movement Intellectual disability, profound Speech apraxia Corneal opacity Myoclonus Mandibular prognathia Cachexia Cerebral cortical atrophy Absent speech Recurrent fractures Intellectual disability, mild Anteverted nares Nausea and vomiting Feeding difficulties in infancy Muscle weakness Nephropathy Cryptorchidism Hemiparesis Muscle cramps Fatigue Hernia Pectus excavatum Inguinal hernia Hypertelorism Growth delay Stroke Hyperpigmentation of the skin Spontaneous hematomas Brachycephaly Jaundice Elevated serum creatine phosphokinase Dilatation Cardiomyopathy Developmental regression Hyperkeratosis Blindness Cerebral hemorrhage Synophrys Generalized-onset seizure Ichthyosis Diplopia Cutaneous photosensitivity Psychosis Vertigo Skin rash Anxiety EEG abnormality Gastroesophageal reflux Hydrocephalus Abnormality of retinal pigmentation Hypopigmented skin patches Postural instability Generalized myoclonic seizures Limb ataxia Dysmetria Hyporeflexia Behavioral abnormality Delayed speech and language development Sensorineural hearing impairment Scoliosis Hallucinations Fever Delusions Abnormality of the pinna Erythema Macular degeneration Ophthalmoparesis Hypertrichosis Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Transient ischemic attack Cardiorespiratory arrest Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Atrial fibrillation Reduced consciousness/confusion Distal arthrogryposis Left ventricular failure Chronic kidney disease Hyperkinesis Atrioventricular block Ileus Proximal tubulopathy Goiter Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Schizophrenia Bilateral sensorineural hearing impairment Seborrheic dermatitis Ragged-red muscle fibers Nephrotic syndrome Stroke-like episode Mutism Type II diabetes mellitus Pulmonary arterial hypertension Ischemic stroke Status epilepticus Anterior hypopituitarism Ventricular hypertrophy Gait imbalance Drowsiness Pulmonary embolism Decreased body weight Hemiplegia/hemiparesis Adrenal insufficiency Hemianopia Aortic aneurysm Clonus Overlapping toe Cardiac arrest Truncal ataxia Abnormality of neuronal migration EMG abnormality Focal segmental glomerulosclerosis Pancreatitis Aphasia Bifid scrotum Generalized hirsutism Abnormality of mitochondrial metabolism Purpura Hypogonadotrophic hypogonadism Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Type I diabetes mellitus Exercise intolerance Bundle branch block Cerebral visual impairment Personality changes Basal ganglia calcification Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Left ventricular hypertrophy Anorexia Gingival overgrowth Decreased nerve conduction velocity Hypercalciuria Rhabdomyolysis Hyperthyroidism Easy fatigability Vestibular dysfunction Glomerulopathy Progressive sensorineural hearing impairment Reduced tendon reflexes Vertebral fusion Multiple lipomas External ophthalmoplegia Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Growth abnormality Prominent ear helix Abnormality of the renal tubule Recurrent infection of the gastrointestinal tract Camptodactyly Intellectual disability, moderate Difficulty walking Kyphoscoliosis Narrow mouth Talipes equinovarus High palate Low-set ears Cleft palate Abnormal facial shape Generalized reticulate brown pigmentation Cutaneous amyloidosis Urethral stricture Short philtrum Broad eyebrow Corneal scarring Enterocolitis Focal dystonia Ulcerative colitis Amyloidosis Colitis Inflammation of the large intestine Keratitis Failure to thrive in infancy Corneal dystrophy Opacification of the corneal stroma Pectus carinatum Prominent nasal bridge Hypohidrosis Sparse eyebrow Long palm Focal motor seizures Narrow palm Long hallux Small earlobe Hyperextensibility of the finger joints Slender build Epileptic spasms Slender finger Long fingers Disproportionate tall stature Decreased muscle mass Nasal speech Facial asymmetry Spontaneous abortion Narrow face Dental crowding Tall stature Broad-based gait Thick lower lip vermilion High myopia Wide intermamillary distance Webbed neck Bifid uvula Bulbous nose Arachnodactyly Smooth philtrum Recurrent pneumonia Bronchiectasis Episodic vomiting Abnormality of the cerebellar vermis Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Psychotic episodes Homonymous hemianopia Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormal cochlea morphology Abnormality of acid-base homeostasis Abnormality of skin pigmentation Basal cell carcinoma Scarring Respiratory tract infection Recurrent respiratory infections Pneumonia Abnormality of metabolism/homeostasis Numerous pigmented freckles Abnormality of amino acid metabolism Squamous cell carcinoma of the skin Arteriosclerosis Demyelinating peripheral neuropathy Poikiloderma Prematurely aged appearance Dermal atrophy Episodic quadriplegia Melanoma Inflammatory abnormality of the eye Corneal erosion Generalized hyperpigmentation Spastic diplegia Abnormality of dental enamel Abnormal pyramidal sign Joint stiffness Skeletal dysplasia Pigmentary retinopathy Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Abnormality of the cardiovascular system Abnormality of the dentition Cerebral calcification Hematuria Blurred vision Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Amblyopia Spastic tetraplegia Tetraplegia Renal cyst Microcornea Retinal detachment Tachycardia Scotoma Astigmatism Hypermetropia Abnormality of the cerebral white matter Facial palsy Abnormality of the nervous system Glaucoma Microphthalmia Frontal cortical atrophy Truncal titubation Craniofacial asymmetry Scanning speech Broad distal phalanx of finger Congenital glaucoma Infantile spasms Titubation Polycoria Intrauterine growth retardation Micrognathia Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Rieger anomaly Posterior embryotoxon Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Abnormality of the pulmonary artery Hypoplasia of the fovea Umbilical hernia Dilated fourth ventricle Encephalitis Abnormality of vision Aminoaciduria Inflammatory abnormality of the skin Abnormal blistering of the skin Aciduria Hepatic steatosis Cirrhosis Abnormality of the eye Nonprogressive cerebellar ataxia Saccadic smooth pursuit Abnormality of the retinal vasculature Insomnia White hair Generalized hypopigmentation Enlarged cisterna magna Ocular albinism Hyperactive deep tendon reflexes Gaze-evoked nystagmus Dysdiadochokinesis Incoordination Intention tremor Gliosis Pes planus Pes cavus Emotional lability Irregular hyperpigmentation Hearing abnormality Reduced visual acuity Aniridia Brisk reflexes Postural tremor Slurred speech Poor head control Low anterior hairline Apraxia Pulmonic stenosis Coloboma Muscular hypotonia of the trunk Neonatal hypotonia Hypoplasia of the corpus callosum Gingivitis Downslanted palpebral fissures Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Intellectual disability, severe Hypoglycemia Amenorrhea Rod-cone dystrophy Hypertrophic cardiomyopathy Proteinuria Myalgia Acidosis Dyspnea Hypothyroidism Autism Weight loss Abdominal pain Diabetes mellitus Hypogonadism Constipation Mental deterioration Delayed skeletal maturation Areflexia Arrhythmia Encephalopathy Renal insufficiency Congestive heart failure Vomiting Myopathy Respiratory distress Short neck Respiratory insufficiency Ventriculomegaly Apnea Protruding ear Skeletal muscle atrophy Lactic acidosis Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Sensory impairment Sudden cardiac death Coma Polyneuropathy Hirsutism Polymicrogyria Nausea Peripheral axonal neuropathy Abnormality of the liver Paresthesia Anal atresia Delayed puberty Carious teeth Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Attention deficit hyperactivity disorder Nyctalopia Dysphagia Hepatomegaly Joint laxity Choreoathetosis Coarse hair Abnormal palate morphology Shock Cutis laxa Spastic tetraparesis Joint dislocation Wormian bones Thickened skin Abnormality of the face Bowing of the long bones Abnormality of the metaphysis Sparse scalp hair Metaphyseal widening Progressive neurologic deterioration Fine hair Tetraparesis Gastrointestinal hemorrhage Chorea Full cheeks Sepsis Neurodegeneration Joint hyperflexibility Narrow chest Severe global developmental delay Sparse hair Hyperextensible skin Myopathic facies Peripheral neuropathy Bladder diverticulum Hypertension Feeding difficulties Anemia Pain Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Arterial stenosis Venous insufficiency Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Osteomyelitis Chondrocalcinosis Pili torti Woolly hair Hypothermia Atypical scarring of skin Exostoses Abnormality of lipid metabolism Hypopigmentation of hair Prolonged neonatal jaundice Tarsal synostosis Prominent occiput Opisthotonus Asymmetry of the ears


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