Dysarthria, and Atopic dermatitis

Diseases related with Dysarthria and Atopic dermatitis

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

Top matches:

High match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium 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

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Other less relevant matches:

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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

Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.

SPINOCEREBELLAR ATAXIA TYPE 42 Is also known as sca42

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 42

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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Top 5 symptoms//phenotypes associated to Dysarthria and Atopic dermatitis

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Cognitive impairment Hyperreflexia Nystagmus Skin rash Muscular hypotonia Strabismus Growth delay Hepatomegaly Microcephaly Tremor Dysphagia Gastroesophageal reflux Hypertonia Depressivity Hearing impairment Vertigo Splenomegaly Headache Pruritus Abnormality of the dentition EEG abnormality Gait ataxia Developmental regression Hypertelorism Neurological speech impairment Ptosis Gait disturbance Feeding difficulties Dementia Thrombocytopenia Dystonia Optic atrophy Psychosis Cerebral atrophy Confusion Hydrocephalus Erythema Scoliosis Failure to thrive Abnormality of the cerebral white matter Myoclonus Diplopia Inflammatory abnormality of the skin Anemia

Rare Symptoms - Less than 30% cases

Alopecia Abnormal cerebellum morphology Cutaneous photosensitivity Progressive microcephaly Abnormality of the cardiovascular system Progressive neurologic deterioration Migraine Spastic tetraplegia Tetraplegia Nephrotic syndrome Peripheral axonal neuropathy Paresthesia Ichthyosis Abnormal pyramidal sign Muscular hypotonia of the trunk Malabsorption Ophthalmoplegia Generalized tonic-clonic seizures Unsteady gait Head tremor Cirrhosis Feeding difficulties in infancy Mental deterioration Hypertrophic cardiomyopathy Anxiety Pulmonary arterial hypertension Involuntary movements Hemiparesis Transient ischemic attack Telecanthus Abnormality of the eye Irritability Sparse hair Dry skin Intellectual disability, severe Long face Jaundice Delayed speech and language development Bruising susceptibility Hepatic steatosis Cerebral ischemia Delusions Sleep disturbance Hyperhidrosis Abnormal bleeding Basal ganglia calcification Visual field defect Abnormality of vision Thick upper lip vermilion Intrauterine growth retardation Bilateral ptosis Cachexia Schizophrenia Hypopigmented skin patches Cerebral visual impairment Hallucinations Decreased body weight Photophobia Behavioral abnormality Sensory impairment High palate Blindness Vomiting Diarrhea Vasculitis Cerebellar atrophy Congestive heart failure Cardiomyopathy Ventriculomegaly Skeletal muscle atrophy Fever Hyporeflexia Eczema Myopathy Respiratory tract infection Abnormality of the nervous system Cataract Encephalopathy Kyphosis Cerebral cortical atrophy Delayed skeletal maturation Weight loss Sensorineural hearing impairment Autism Elevated serum creatine phosphokinase Short neck Constipation Acidosis Abnormal aortic valve morphology Hyperextensibility of the finger joints Excessive wrinkled skin Abnormality of hair texture Abnormality of the pulmonary artery Abnormal mitral valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Multiple lentigines Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Asthma Cavernous hemangioma Abnormal tricuspid valve morphology Sparse or absent eyelashes Hemolytic anemia Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Oral aversion Neutropenia Absent speech Cutaneous T-cell lymphoma Spastic paraplegia Abnormality of eye movement Paraplegia Lymphadenopathy Conductive hearing impairment Brain atrophy Recurrent respiratory infections Inappropriate crying Morphological abnormality of the gastrointestinal tract Increased nuchal translucency Optic nerve dysplasia Endocarditis Frontal balding Anterior creases of earlobe Abnormality of the optic disc Short attention span Patchy alopecia Hypoplasia of the frontal lobes Puberty and gonadal disorders Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Woolly hair Poor appetite Abnormality of the gastrointestinal tract Abnormal palate morphology Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Cutis laxa Scaling skin Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Hyperpigmentation of the skin Lymphedema Cafe-au-lait spot Thickened skin Open mouth Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Sparse eyebrow Pleural effusion Abnormality of the ulna Abnormal heart valve morphology Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Long palpebral fissure Ectropion Large for gestational age Melanocytic nevus Cubitus valgus Chronic otitis media Heart murmur Obsessive-compulsive behavior Absent eyebrow Open bite Abnormality of the sternum Malnutrition Hydroureter Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Neurofibromas Infantile spasms Tetraparesis Pes cavus Lower limb spasticity Grasp reflex Intellectual disability, profound Mitral valve prolapse Oligohydramnios Neuronal loss in central nervous system Chorea Ascites Neurodegeneration Retinal degeneration Abnormality of movement Paralysis Neonatal hypotonia Hepatosplenomegaly Pneumonia Neutral hyperaminoaciduria Glabellar reflex Clumsiness Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Irregular hyperpigmentation Insomnia Emotional lability Encephalitis Aminoaciduria Intention tremor Dysphonia Abnormal blistering of the skin Congenital thrombocytopenia Arterial thrombosis Peripheral arterial stenosis Thrombocytosis Acute myeloid leukemia Myelodysplasia Venous thrombosis Spontaneous abortion Syncope Chest pain Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Fetal ascites Athetosis Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Visceromegaly Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear gaze palsy Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Chronic diarrhea Aciduria Recurrent infections Smooth philtrum Melanoma Abnormality of the skeletal system Immunodeficiency Retinopathy Achilles tendon contracture Brisk reflexes Short chin Narrow face Broad-based gait Hypotelorism Esotropia Underdeveloped nasal alae Prominent nose Thick eyebrow Synophrys Urticaria Small for gestational age Prominent nasal bridge Short philtrum Blepharophimosis Postnatal growth retardation Narrow forehead Wide nasal bridge Chilblains Serositis Progressive spastic paraplegia Pericardial effusion Increased antibody level in blood Toe walking Spastic tetraparesis Dermal atrophy Basal cell carcinoma Eyelid myokymia Resting tremor Reduced brain N-acetyl aspartate level by MRS Loss of Purkinje cells in the cerebellar vermis Neurodevelopmental abnormality Upper limb postural tremor Hyperintensity of cerebral white matter on MRI Impaired vibration sensation at ankles Impaired distal vibration sensation Gaze-evoked horizontal nystagmus Hypometric saccades Saccadic smooth pursuit Spastic ataxia Abnormal facial shape Atrophy/Degeneration affecting the brainstem Cerebellar vermis atrophy Urinary urgency Prematurely aged appearance Babinski sign Poikiloderma Demyelinating peripheral neuropathy Arteriosclerosis Squamous cell carcinoma of the skin Abnormality of amino acid metabolism Numerous pigmented freckles Brachydactyly Impotence Parkinsonism Urinary incontinence Spastic gait Horizontal nystagmus Psoriasiform dermatitis Alzheimer disease Cardiomegaly Palmoplantar keratoderma Progressive visual loss Fatigue Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Bundle branch block Decreased nerve conduction velocity Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Respiratory insufficiency Mutism Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Adrenal insufficiency Aphasia Purpura Hashimoto thyroiditis Aortic dissection Facial diplegia Cardiorespiratory arrest Hypertension Peripheral neuropathy Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Drowsiness Vestibular dysfunction Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Dysphasia Macular degeneration Exercise intolerance Tubulointerstitial nephritis Rod-cone dystrophy Nausea Lactic acidosis Visual loss Arrhythmia Areflexia Dysmetria Anal atresia Delayed puberty Nausea and vomiting Carious teeth Congenital cataract Cerebellar hypoplasia Arthrogryposis multiplex congenita Lethargy Osteoporosis Hirsutism Dilated cardiomyopathy Hypogonadism Stroke Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Diabetes mellitus Abdominal pain Apnea Proteinuria Myalgia Hypothyroidism Polymicrogyria Nephropathy Type I diabetes mellitus Status epilepticus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Respiratory distress Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Hypertrichosis Atrial fibrillation Ventricular hypertrophy Type II diabetes mellitus Polyneuropathy Increased serum lactate Coma Postural instability Muscle cramps Generalized myoclonic seizures Sudden cardiac death Renal insufficiency Memory impairment Bilateral sensorineural hearing impairment Hip dysplasia Specific learning disability Amenorrhea Cerebral calcification Pigmentary retinopathy Generalized-onset seizure Renal tubular dysfunction Visual hallucinations Growth hormone deficiency Allergic rhinitis Abnormality of the kidney Combined immunodeficiency Low-set, posteriorly rotated ears Severe combined immunodeficiency Aggressive behavior Hydronephrosis Umbilical hernia Coarse facial features Osteopenia Macrotia High forehead Polyhydramnios Proptosis Hyperkeratosis Prominent forehead Recurrent skin infections Posteriorly rotated ears Membranoproliferative glomerulonephritis Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Pectus excavatum Hernia Vasculitis in the skin Abnormality of cardiovascular system morphology Malar flattening Long philtrum Short nose Autoimmune neutropenia Cortical myoclonus Glomerulonephritis Scarring Edema Lymphopenia Webbed neck Dental malocclusion Premature birth Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Lymphoma Abdominal distention Dyspnea High, narrow palate Bronchiectasis Thick vermilion border Retinal dystrophy Bulbous nose Abnormal cardiac septum morphology Falls Joint hypermobility Abnormality of skin pigmentation Narrow palpebral fissure Astigmatism Genu valgum Pulmonic stenosis Hypotrichosis Hypermetropia Leukopenia Dolichocephaly Nail dystrophy Leukemia Pectus carinatum Muscle weakness Atrial septal defect Increased CSF lactate Episodic vomiting Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of the renal tubule Abnormality of the cerebellar vermis Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Motor delay Wolff-Parkinson-White syndrome Psychotic episodes Crohn's disease Pain Morphological abnormality of the inner ear Anteverted nares Ventricular septal defect Frontal bossing Downslanted palpebral fissures Macrocephaly Myopia Epicanthus Depressed nasal bridge Low-set ears Cryptorchidism Visual impairment Micrognathia Neoplasm Prominent ear helix Morphological abnormality of the vestibule of the inner ear Hemeralopia Progressive night blindness Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Cochlear degeneration Bilateral intracranial calcifications Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Chronic myelogenous leukemia


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