Dysarthria, and Coarse facial features

Diseases related with Dysarthria and Coarse facial features

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


Top matches:

High match FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

High match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

High match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


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

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Other less relevant matches:

High match SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


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

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE


Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

High match SANDHOFF DISEASE, INFANTILE FORM


Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Medium match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Dysarthria and Coarse facial features

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Dysarthria and Coarse facial features. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Muscular hypotonia Spasticity Strabismus Intellectual disability, severe Hypertelorism Talipes equinovarus Hypoplasia of the corpus callosum Babinski sign Hyperreflexia Absent speech Flexion contracture Short neck Cerebellar atrophy Generalized hypotonia Nystagmus Delayed speech and language development Hepatomegaly High palate Frontal bossing Downslanted palpebral fissures Macrocephaly Depressed nasal bridge Ventriculomegaly Wide mouth Thick eyebrow Wide nasal bridge Amblyopia Sensorineural hearing impairment Hepatosplenomegaly Abnormal facial shape Delayed skeletal maturation Muscle weakness Growth delay Abnormality of the skeletal system Brachydactyly Epicanthus Thoracic scoliosis Dystonia Scoliosis Kyphoscoliosis Microcephaly Midface retrusion Progressive cerebellar ataxia Inability to walk

Rare Symptoms - Less than 30% cases


Otitis media Recurrent respiratory infections Skeletal muscle atrophy Synovitis Respiratory tract infection Difficulty walking Cerebral cortical atrophy Thoracic kyphosis Abnormality of the neck Drooling Coarse hair Micrognathia Melanocytic nevus Optic disc pallor Delayed myelination Cerebral atrophy Malar flattening Hypogonadotrophic hypogonadism Dysostosis multiplex Abnormality of the helix Intellectual disability, progressive Chronic diarrhea Abnormality of the sternum Hypertrichosis Thick lower lip vermilion Prominent forehead Splenomegaly Behavioral abnormality Dysphagia Low-set ears Sparse hair Dental malocclusion Low anterior hairline Neurodegeneration Abnormality of the dentition Hydrocephalus Facial hypotonia Genu recurvatum Abnormality of the periventricular white matter Thickened calvaria Pectus excavatum Spastic tetraplegia Narrow forehead Macroglossia Motor delay Waddling gait Tetraplegia Bulbous nose Vacuolated lymphocytes Oligosacchariduria Paraplegia Spastic paraplegia Short philtrum Neonatal hypotonia Hypertonia Exotropia Cryptorchidism Gait ataxia Mandibular prognathia Proptosis Psychosis Progressive neurologic deterioration Hirsutism Dysmetria Myopia Cataract Pain Neurological speech impairment Broad forehead Kyphosis Pectus carinatum Cognitive impairment Everted upper lip vermilion Acetabular dysplasia Pes planus Premature skin wrinkling Thickened nuchal skin fold Abnormality of the mouth High anterior hairline Abnormality of the testis Acute leukemia Prominent fingertip pads Thickened helices Abnormality of refraction Abnormality of the pulmonary artery Pulmonary artery stenosis Chylothorax Multiple lentigines Prolonged QRS complex Abnormal hair quantity Enlarged thorax Abnormality of the mandible Myeloproliferative disorder Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Intestinal lymphangiectasia Shield chest Unilateral ptosis Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Abnormality of the lymphatic system Lymphedema Acute lymphoblastic leukemia Postnatal growth retardation Webbed neck Abnormal bleeding Triangular face High, narrow palate Thick vermilion border Bruising susceptibility Joint hypermobility Joint hyperflexibility Delayed puberty Pulmonic stenosis Feeding difficulties in infancy Tetralogy of Fallot Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Hydronephrosis Gastroesophageal reflux High forehead Polyhydramnios Hypogonadism Constipation Clinodactyly of the 5th finger Arrhythmia Patent ductus arteriosus Wide intermamillary distance Mitral valve prolapse Aortic root aneurysm Failure to thrive in infancy Curly hair Male infertility Abnormality of digit Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Cubitus valgus Pleural effusion Abnormality of the thorax Bilateral ptosis Coarctation of aorta Radioulnar synostosis Abnormality of the urinary system Arnold-Chiari malformation Abnormal dermatoglyphics Scapular winging Aortic valve stenosis Cafe-au-lait spot Decreased body weight Abnormality of the genital system Mitral regurgitation Low posterior hairline Abnormal pulmonary valve morphology Corneal opacity Reduced factor VIII activity Open bite Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Reduced ejection fraction Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Spastic gait Hallucinations Limb ataxia Hydrocele testis Spondylolisthesis Tall stature Increased hepatic glycogen content Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased vertebral height Craniofacial hyperostosis Spondylolysis Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Thoracolumbar kyphosis Abnormal echocardiogram Abnormal cornea morphology Abnormality of the rib cage Gingival overgrowth Bowing of the long bones Pulmonary lymphangiectasia Morphological abnormality of the inner ear Myopathy Gait disturbance Optic atrophy Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Aplasia of the semicircular canal Immunodeficiency Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Reduced factor XII activity Reduced factor XI activity Abnormal platelet function Intellectual disability, mild Recurrent infections Depressed nasal ridge Hypermetropia Pancytopenia Type II diabetes mellitus Peripheral demyelination Hip dysplasia Decreased antibody level in blood Gliosis Highly arched eyebrow Retinal degeneration Confusion Genu valgum Abnormality of the foot Abnormality of the cerebral white matter Hernia Thrombocytopenia Mental deterioration Anxiety Arthritis Umbilical hernia Skeletal dysplasia Osteopenia Macrotia Inguinal hernia Areflexia Depressivity Clinodactyly Spina bifida occulta Abnormality of cardiovascular system morphology Broad nasal tip Hypoplasia of the odontoid process Thin ribs Broad palm Short finger Short femoral neck Metaphyseal widening Coxa vara Wormian bones Abnormality of the face Platyspondyly Spondyloepimetaphyseal dysplasia Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Growth abnormality Recurrent upper respiratory tract infections Progressive hearing impairment Sleep disturbance Synophrys Broad foot Delayed CNS myelination Aggressive behavior Dementia Impotence Emotional lability Hemiplegia Fasciculations Hypohidrosis Cardiomegaly Urinary incontinence Paralysis Hyperhidrosis Blindness Flared iliac wings Peripheral neuropathy Peg-like central prominence of distal tibial metaphyses Cone-shaped capital femoral epiphysis Widened subarachnoid space Metaphyseal cupping of metacarpals Anterior rib cupping Prominent sternum Subcortical cerebral atrophy Flattened epiphysis Small epiphyses Joint stiffness Hyperactivity Episodic abdominal pain Open mouth Small hand Short palm Abnormal pyramidal sign Micropenis Cerebellar hypoplasia Hyporeflexia Tremor Excessive salivation Protruding tongue Febrile seizures Brain atrophy Aspartylglucosaminuria Visceromegaly Athetosis Spastic tetraparesis Clumsiness Tetraparesis Generalized tonic-clonic seizures Severe global developmental delay Rigidity Abnormality of metabolism/homeostasis Short foot Intention tremor Diarrhea Pointed chin Anteverted nares Prominent antihelix Shyness Spastic dysarthria Generalized joint laxity Overweight Progressive spastic paraplegia Long nose Decreased muscle mass Narrow face Heterotopia Stereotypy Talipes Poor speech Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate nucleus Cortical dysplasia Global brain atrophy Dysdiadochokinesis Lissencephaly Truncal ataxia Orthostatic hypotension Megalencephaly Atrial septal defect Broad face Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Neoplasm of the endocrine system Vertebral wedging Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Abnormality of the sense of smell Parietal bossing Milia Ovarian fibroma Ventricular septal defect Feeding difficulties Ptosis Failure to thrive Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Ovarian carcinoma Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Basal cell carcinoma Disproportionate tall stature Supranuclear gaze palsy Brachycephaly Cleft lip Telecanthus Proteinuria Carcinoma EEG abnormality Retrognathia Polydactyly Glaucoma Abdominal pain Visual loss Coloboma Microphthalmia Syndactyly Cleft palate Neoplasm Impaired thermal sensitivity Abnormality of glycosphingolipid metabolism Cherry red spot of the macula Progressive psychomotor deterioration Upper motor neuron dysfunction Motor deterioration Facial palsy Papule Inflammation of the large intestine Hemiparesis Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Hemivertebrae Muscle stiffness Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Abnormality of the ribs Hypotrichosis Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Carious teeth Spinocerebellar tract disease in lower limbs



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