Dysarthria, and Hypertrichosis

Diseases related with Dysarthria and Hypertrichosis

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

Top matches:

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

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

LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Other less relevant matches:

Medium match LEIGH SYNDROME; LS

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

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

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

Top 5 symptoms//phenotypes associated to Dysarthria and Hypertrichosis

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Ptosis Abnormal facial shape Thick eyebrow Low-set ears Hypertelorism Muscular hypotonia Absent speech Anteverted nares Muscular hypotonia of the trunk Nystagmus Cerebellar hypoplasia Abnormality of movement Ataxia Hyperreflexia Spasticity Short stature Prominent nasal bridge Gait disturbance Smooth philtrum Dystonia Difficulty walking Downslanted palpebral fissures Cerebellar atrophy Cryptorchidism Optic atrophy Apraxia Microcephaly Dysphagia Unsteady gait

Rare Symptoms - Less than 30% cases

Neurological speech impairment Decreased activity of the pyruvate dehydrogenase complex Increased CSF lactate High, narrow palate Leukodystrophy Pigmentary retinopathy Increased serum lactate Ophthalmoplegia Hypertrophic cardiomyopathy Acidosis Failure to thrive Emotional lability Myopia Cerebral atrophy Broad nasal tip Neonatal hypotonia Prominent forehead Poor head control Speech apraxia Slender finger Low anterior hairline High myopia Wide intermamillary distance Downturned corners of mouth Asymmetric septal hypertrophy Bulbous nose Coloboma Thick lower lip vermilion Abnormality of the pinna Hearing impairment Thin upper lip vermilion Cognitive impairment Mandibular prognathia Aggressive behavior Wide mouth Tremor Dysmetria Truncal ataxia Intellectual disability, severe Gait ataxia Abnormal cerebellum morphology Short philtrum Slurred speech Long face Broad-based gait Brisk reflexes Short chin Narrow face Intellectual disability, moderate High palate Thickened ribs Ovoid thoracolumbar vertebrae Cellular metachromasia Cleft palate Agenesis of corpus callosum Arachnodactyly Pectus excavatum Talipes equinovarus Camptodactyly Facial asymmetry Myoclonus Dysostosis multiplex Pectus carinatum Osteoporosis Brachycephaly Narrow mouth Babinski sign Kyphoscoliosis Heparan sulfate excretion in urine Achilles tendon contracture Growth abnormality Diarrhea Oval face Horizontal eyebrow Overfolding of the superior helices Broad chin Flexion contracture Depressed nasal bridge Hepatomegaly Frontal bossing Short neck Behavioral abnormality Coarse hair Splenomegaly Hyperactivity Coarse facial features Joint stiffness Hirsutism Sleep disturbance Progressive hearing impairment Drooling Recurrent upper respiratory tract infections Chronic diarrhea Generalized myoclonic seizures Recurrent fractures Postural tremor Intellectual disability, mild Cerebral cortical atrophy Reduced visual acuity Corneal opacity Congenital cataract Pulmonic stenosis Hypopigmentation of the skin Involuntary movements Limb ataxia Bilateral ptosis Mask-like facies Motor delay Aniridia Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Titubation Abnormality of the pulmonary artery Broad distal phalanx of finger Scanning speech Craniofacial asymmetry Truncal titubation Hypoplasia of the corpus callosum Visual impairment Postural instability Decreased muscle mass Inverted nipples Bifid uvula Webbed neck Intellectual disability, profound Tall stature Dental crowding Hyperpigmentation of the skin Spontaneous abortion Nasal speech Sparse eyebrow Disproportionate tall stature Cataract Long fingers Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Long palm Asymmetry of the ears Pain insensitivity Stereotypy Delayed ability to walk Gliosis Respiratory failure Elevated serum creatine phosphokinase Abnormality of the eye Developmental regression Pallor Abnormality of eye movement Lactic acidosis Neurodegeneration Metabolic acidosis Peripheral demyelination Pes cavus Optic disc pallor Progressive neurologic deterioration Incoordination Failure to thrive in infancy Hypertonia CNS demyelination Abnormal pattern of respiration Respiratory arrest Hepatocellular necrosis Encephalopathy Cardiomyopathy Episodic metabolic acidosis Underdeveloped nasal alae Anemia Peripheral neuropathy Progressive microcephaly Ventricular septal defect Hypotelorism Apnea Eczema Progressive cerebellar ataxia Esotropia Prominent nose Respiratory insufficiency Small for gestational age Progressive spastic paraplegia Decreased activity of mitochondrial respiratory chain Blepharophimosis Focal T2 hyperintense basal ganglia lesion Sensorineural hearing impairment Sparse hair Skeletal muscle atrophy Postnatal growth retardation Telecanthus Mitochondrial respiratory chain defects Abnormality of the dentition Myopathic facies High forehead Cavum septum pellucidum Diastema Unilateral cryptorchidism Pain Epicanthus Intention tremor Posteriorly rotated ears Micropenis Gastroesophageal reflux Deeply set eye Volvulus Falls Astigmatism Triangular face Vesicoureteral reflux Delayed myelination Decreased fetal movement Thick upper lip vermilion Abnormality of the genitourinary system Deep philtrum Overfolded helix Cerebellar vermis hypoplasia Single umbilical artery Myopathy Nonprogressive cerebellar ataxia Feeding difficulties Wide nasal bridge Ventriculomegaly Abnormality of the distal phalanx of the thumb Constipation Macrotia Pes planus Monotonic speech Thoracic hemivertebrae Mild microcephaly Clumsiness Abnormal cardiac septum morphology Infantile muscular hypotonia Oculomotor apraxia Highly arched eyebrow Hemivertebrae Intestinal malrotation Horizontal nystagmus Broad thumb Long eyelashes Frequent falls Frontal cortical atrophy


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