Dysarthria, and Ichthyosis

Diseases related with Dysarthria and Ichthyosis

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

Top matches:

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

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

Medium match KALLMANN SYNDROME

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Other less relevant matches:

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

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

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

RECESSIVE X-LINKED ICHTHYOSIS Is also known as x-linked ichthyosis|rxli|xli|steroid sulfatase deficiency

Related symptoms:

  • Cryptorchidism
  • Hyperkeratosis
  • Autism
  • Attention deficit hyperactivity disorder
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE X-LINKED ICHTHYOSIS

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

Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

Top 5 symptoms//phenotypes associated to Dysarthria and Ichthyosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neurological speech impairment Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dry skin Nystagmus Erythema Cryptorchidism Muscular hypotonia Microcephaly Global developmental delay Muscle weakness Autism Attention deficit hyperactivity disorder Short stature Cardiomyopathy Skeletal muscle atrophy Ptosis Myopathy Macular degeneration Kyphosis Hyporeflexia Constipation Hypogonadotrophic hypogonadism Depressivity Hepatomegaly Hypohidrosis Sensorineural hearing impairment Gait disturbance Peripheral axonal neuropathy Cognitive impairment Delayed skeletal maturation Elevated serum creatine phosphokinase Dilated cardiomyopathy Hearing impairment

Rare Symptoms - Less than 30% cases

Short neck Abnormality of the dentition Congestive heart failure Vomiting Cerebellar atrophy Blindness Ventriculomegaly Growth delay Motor delay Hypertelorism Failure to thrive Cerebral visual impairment Cataract Dysphagia Mutism Feeding difficulties Optic atrophy Abnormality of the nail Cerebral atrophy Hypertonia Abnormality of the cardiovascular system Delayed speech and language development Dysphasia Atopic dermatitis Ophthalmoplegia Pruritus Palmoplantar keratoderma Feeding difficulties in infancy Hypertrophic cardiomyopathy EEG abnormality Falls Gastroesophageal reflux Gait ataxia Renal insufficiency Cerebral cortical atrophy Palmoplantar hyperkeratosis Hypogonadism Hypotrichosis Hemiparesis Decreased body weight Papule Bilateral ptosis Encephalopathy Thickened skin Facial asymmetry Anterior hypopituitarism Hyperreflexia Generalized-onset seizure Generalized hyperpigmentation Rhabdomyolysis Arrhythmia Atrial septal defect Tremor Anxiety Areflexia Visual impairment Cleft palate Urticaria Obsessive-compulsive behavior Abnormality of retinal pigmentation Abnormal pyramidal sign Strabismus Photophobia Skeletal dysplasia Myopia Spasticity Scoliosis Abnormality of the musculature Abnormality of cardiovascular system morphology Myoclonus Behavioral abnormality Aspiration Delayed puberty Atrial fibrillation Cardiomegaly Muscular dystrophy Dystonia Generalized hypotonia EMG abnormality Anemia Splenomegaly Alopecia Peripheral neuropathy Macrocephaly Intestinal malrotation Premature birth Lymphedema Dental malocclusion Progressive visual loss Cafe-au-lait spot Epicanthus Open mouth Myocardial infarction Fine hair Low posterior hairline Webbed neck Coarctation of aorta Narrow forehead Growth hormone deficiency Inflammatory abnormality of the skin Hyperhidrosis Hyperpigmentation of the skin Hyperextensible skin Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Poor suck Narrow palate Relative macrocephaly Abnormality of vision Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Vesicoureteral reflux Sparse eyelashes Oculomotor apraxia Retinal dystrophy Nevus Abnormality of the kidney Leukemia Pectus carinatum Large for gestational age Abnormal cardiac septum morphology Pectus excavatum Scarring Abnormal heart morphology Inguinal hernia Clinodactyly of the 5th finger Sparse hair Respiratory tract infection Irritability Abnormality of the eye Nail dystrophy Low-set, posteriorly rotated ears Posteriorly rotated ears Telecanthus Aggressive behavior Hydronephrosis Umbilical hernia Coarse facial features Osteopenia Macrotia Prominent forehead High forehead Polyhydramnios Hernia Thrombocytopenia Full cheeks Downslanted palpebral fissures Abnormal bleeding Abdominal distention Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Proptosis Bruising susceptibility Bulbous nose Joint hypermobility Long face Abnormality of skin pigmentation Astigmatism Dolichocephaly Frontal bossing Ventricular septal defect Anteverted nares Genu valgum Hydrocephalus Pulmonic stenosis Edema Hypermetropia Intellectual disability, severe Short nose Long philtrum Abnormality of the cerebral white matter Malar flattening Absent eyebrow Multiple lentigines Open bite Hypotension Neonatal hypotonia Hyperactivity Intellectual disability, mild Supranuclear ophthalmoplegia Supranuclear gaze palsy Impaired smooth pursuit Orthostatic hypotension Macule Dysdiadochokinesis Fasciculations Limb ataxia Intention tremor Abnormality of the skin Facial palsy Progressive cerebellar ataxia Abnormality of movement Babinski sign Opacification of the corneal stroma Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Proximal muscle weakness Poor speech Abnormality of the hairline Leukonychia Abnormality of the stomach Abdominal wall defect Abnormality of the abdominal wall Acute leukemia Unilateral renal agenesis Lissencephaly Corneal opacity Honeycomb palmoplantar keratoderma Epidermal thickening Ainhum Autoamputation of digits Abnormality of the spinal cord Plantar hyperkeratosis Amniotic constriction ring Waddling gait Xanthomatosis Abnormal toenail morphology Self-injurious behavior Osteolysis Cleft lip Mitochondrial depletion Difficulty standing Mildly elevated creatine phosphokinase Congenital muscular dystrophy Gowers sign Infantile muscular hypotonia Frequent falls Mitral valve prolapse Abnormal location of ears Hyperkeratosis pilaris Malnutrition Poor appetite Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna 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 Dystrophic fingernails Anal stenosis Submucous cleft hard palate Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Abnormal hair pattern Abnormality of the optic nerve Tongue thrusting Cavernous hemangioma Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Abnormality of hair texture Abnormality of the testis Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Depressed nasal bridge Reduced consciousness/confusion High palate Nausea and vomiting Polyneuropathy Nephropathy Hirsutism Polymicrogyria Nausea Lactic acidosis Vertigo Confusion Paresthesia Dysmetria Anal atresia Malabsorption Carious teeth Postural instability Congenital cataract Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Stroke Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Developmental regression Mental deterioration Apnea Proteinuria Coma Muscle cramps Jaundice Pulmonary arterial hypertension Truncal ataxia Cardiac arrest Clonus Hallucinations Gingival overgrowth Anorexia Left ventricular hypertrophy Involuntary movements Hypertrichosis Ventricular hypertrophy Psychosis Status epilepticus Type II diabetes mellitus Abnormal cerebellum morphology Nephrotic syndrome Bilateral sensorineural hearing impairment Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Myalgia Acidosis Type I diabetes mellitus Spastic diplegia Primary amenorrhea Hypoplasia of penis Decreased testicular size Renal agenesis Recurrent fractures Paraplegia Pes planus Micropenis Pes cavus Obesity Inflammatory abnormality of the eye Corneal erosion Abnormality of dental enamel Reduced bone mineral density Retinopathy Joint stiffness Phonic tics Abetalipoproteinemia Personality disorder Tics Acanthocytosis Motor axonal neuropathy Aspiration pneumonia Chorea Dyskinesia Hepatosplenomegaly Pneumonia Gynecomastia Anosmia Dyspnea Respiratory insufficiency Hypothyroidism Weight loss Abdominal pain Diabetes mellitus Osteoporosis Dementia Rod-cone dystrophy Cerebellar hypoplasia Visual loss Headache Diarrhea Respiratory distress Fatigue Reduced number of teeth Fever Hypertension Pain Hypothalamic gonadotropin-releasing hormone deficiency Erectile abnormalities Dyspareunia Bimanual synkinesia Breast hypoplasia Abnormality of female internal genitalia Hyposmia Decreased fertility Abnormality of color vision Abnormality of the voice Generalized hirsutism Exercise intolerance Low-set ears Abnormality of peripheral nerve conduction Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Retinal pigment epithelial atrophy Gastroparesis Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Gait imbalance Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Spontaneous hematomas Amaurosis fugax Delusions Cochlear degeneration Micrognathia Neoplasm Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Progressive night blindness Auditory hallucinations Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Cardiorespiratory arrest Transient ischemic attack Purpura Decreased nerve conduction velocity 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 Cachexia Abnormality of neuronal migration Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Focal segmental glomerulosclerosis Overlapping toe Posterior subcapsular cataract Primary adrenal insufficiency Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Abnormality of immune system physiology Adrenal insufficiency Thyroiditis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Vestibular dysfunction Aphasia Bundle branch block Testicular seminoma


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