Dysarthria, and Platyspondyly

Diseases related with Dysarthria and Platyspondyly

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

Top matches:

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

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

Medium match WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Other less relevant matches:

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

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Short neck


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE

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

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

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

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Top 5 symptoms//phenotypes associated to Dysarthria and Platyspondyly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Coarse facial features Scoliosis Thick eyebrow Short stature Delayed speech and language development Prominent forehead Short neck Delayed skeletal maturation Epicanthus Ataxia Dysmetria Malar flattening Cerebral atrophy Midface retrusion Flexion contracture Hypertelorism Macrotia Delayed myelination Hypertrichosis Hyperlordosis Mandibular prognathia Behavioral abnormality Macrocephaly Generalized hypotonia Pain Joint stiffness Neurological speech impairment Microcephaly Slurred speech Tremor Anteverted nares Hearing impairment Hyperreflexia Frontal bossing Neurodegeneration Abnormality of the ilium Ventriculomegaly Abnormality of the face Muscular hypotonia Gait ataxia Babinski sign

Rare Symptoms - Less than 30% cases

Clumsiness Sparse hair Umbilical hernia Bowing of the long bones Gait disturbance Optic atrophy Hyperhidrosis Hepatosplenomegaly Inguinal hernia Skeletal dysplasia Hernia Round face Talipes equinovarus Downslanted palpebral fissures Growth delay Down-sloping shoulders Cryptorchidism Kyphoscoliosis Sensorineural hearing impairment Muscle weakness Broad forehead Fine hair Dental malocclusion Hydrocephalus Flat occiput Splenomegaly Increased vertebral height Abnormal facial shape Genu valgum Brisk reflexes Cerebellar atrophy Intellectual disability, severe Pectus carinatum Thoracolumbar kyphosis Abnormality of the skeletal system Coxa valga Hydrocele testis Intrauterine growth retardation Limited elbow extension Tall stature Synophrys Truncal ataxia Lumbar kyphosis Strabismus Motor delay Flared iliac wings Coxa vara Wormian bones Low anterior hairline Optic disc pallor Thickened calvaria Hypoplasia of the corpus callosum Brachydactyly Micrognathia Low-set ears Decreased beta-galactosidase activity Visceromegaly Dysostosis multiplex Short femoral neck Loss of speech Vacuolated lymphocytes Intention tremor Mental deterioration Rigidity Pes cavus Intellectual disability, mild Dystonia Hypertonia Skeletal muscle atrophy Cognitive impairment Micromelia Hepatomegaly Hypoplasia of the odontoid process Disproportionate short stature Spondyloepimetaphyseal dysplasia Prominent sternum Thoracic kyphosis Lumbar hyperlordosis Abnormality of the metaphysis Spinal canal stenosis Chronic otitis media Thoracic hemivertebrae Nonprogressive cerebellar ataxia Monotonic speech Synovial hypertrophy Mild microcephaly Progressive joint destruction Abnormality of the distal phalanx of the thumb Abnormality of dental structure Antineutrophil antibody positivity Cerebellar hypoplasia Abnormality of the hip bone Feeding difficulties Avascular necrosis of the capital femoral epiphysis Infantile muscular hypotonia Abnormality of joint mobility Hypoplastic inferior ilia Decreased pulmonary function Disproportionate short-trunk short stature Generalized abnormality of skin Hypertension Cone-shaped epiphyses of the phalanges of the hand Barrel-shaped chest Abnormality of the wrist Hypoplastic pelvis Flattened moderately deformed vertebrae Oculomotor apraxia Spinocerebellar tract disease in lower limbs Carpal bone hypoplasia Intellectual disability, moderate Sloping forehead Short metacarpal Irregular iliac crest Distal ulnar hypoplasia Abnormality of movement Hypoplastic sacrum Unsteady gait Falls Abnormal cerebellum morphology Shoulder dislocation Hypoplastic ischia Apraxia Short thorax Hip dislocation Abnormality of epiphysis morphology Attention deficit hyperactivity disorder Frequent falls Postnatal growth retardation Abnormality of the nervous system Horizontal nystagmus Hemivertebrae Autism Hallux valgus Agenesis of corpus callosum Brachycephaly Cerebellar vermis hypoplasia Recurrent upper respiratory tract infections Fever Mesomelia Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Abnormality of the elbow Obstructive sleep apnea Flared metaphysis Pectus excavatum Elbow dislocation Abnormality of pelvic girdle bone morphology Genu varum Short long bone Disproportionate short-limb short stature Acanthosis nigricans Clonus Rhizomelia Dental crowding Acromelia Diabetes mellitus Abnormality of the ribs Oligodontia Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Ketoacidosis High pitched voice Polyuria Hyperglycemia Hypoplasia of the brainstem Polydipsia Type I diabetes mellitus Narrow mouth Abnormal vertebral morphology Renal hypoplasia Blue sclerae Hypotelorism Full cheeks Downturned corners of mouth Delayed puberty Small for gestational age Hypothyroidism Abnormal form of the vertebral bodies Limb undergrowth Blindness Developmental stagnation Absent speech Diarrhea Dysphagia Sea-blue histiocytosis Progressive psychomotor deterioration Decerebrate rigidity Loss of ability to walk Psychomotor deterioration Abnormality of the spleen Spastic paraparesis Difficulty walking Paraparesis Spastic tetraplegia Generalized myoclonic seizures Generalized muscle weakness Tetraplegia Abnormality of the liver Developmental regression Posteriorly rotated ears Renal insufficiency Hyperactivity Aggressive behavior Sudden cardiac death Thickened ribs Short palm Joint hyperflexibility Narrow chest Apnea Conductive hearing impairment Severe short stature Obesity Cellular metachromasia Ovoid thoracolumbar vertebrae Heparan sulfate excretion in urine Wide mouth Asymmetric septal hypertrophy Growth abnormality Coarse hair Drooling Progressive hearing impairment Chronic diarrhea Thick lower lip vermilion Sleep disturbance Hirsutism Increased hepatic glycogen content Macroglossia Spondylolysis Pachygyria Accelerated skeletal maturation Pointed chin Short ribs Hoarse voice Joint contracture of the hand Lymphedema Broad thumb Overgrowth Back pain Amenorrhea Nail dysplasia Lymphoma Talipes Leukemia Abnormality of the pinna Camptodactyly Joint laxity Cutis laxa Large hands Retrognathia Diastasis recti Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hypoplastic iliac wing Prolactin excess Radial deviation of finger Acute lymphoblastic leukemia Inverted nipples Secondary amenorrhea Absent septum pellucidum Bilateral talipes equinovarus Large for gestational age Overlapping toe Metatarsus adductus Neonatal hypotonia Clinodactyly Thin nail Generalized amyotrophy Facial grimacing Foam cells Diffuse cerebral atrophy Generalized dystonia Hyperactive deep tendon reflexes Abnormality of blood and blood-forming tissues Progressive spasticity Athetosis Stuttering Spastic tetraparesis Opacification of the corneal stroma Tetraparesis Abnormality of extrapyramidal motor function Urinary incontinence Chorea Parkinsonism Myoclonus Angiokeratoma Hypoplastic acetabulae Long philtrum Small epiphyses Neoplasm Peg-like central prominence of distal tibial metaphyses Cone-shaped capital femoral epiphysis Widened subarachnoid space Metaphyseal cupping of metacarpals Anterior rib cupping Subcortical cerebral atrophy Flattened epiphysis Delayed CNS myelination Anterior beaking of lumbar vertebrae Broad foot Thin ribs Broad palm Short finger Metaphyseal widening Intellectual disability, progressive Broad nasal tip High palate Calcaneovalgus deformity Teratoma Oligosacchariduria Prominent supraorbital ridges Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Heart murmur Increased intracranial pressure Limb dystonia Widely spaced teeth Recurrent bacterial infections Narrow palate Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Bronchitis Aseptic necrosis Depressed nasal ridge Synovitis Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Abnormal echocardiogram Abnormal cornea morphology Severe sensorineural hearing impairment Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Impaired smooth pursuit Delusions Patellar dislocation Progressive neurologic deterioration Psychosis Galactorrhea Flared humeral metaphysis Immunodeficiency Abnormality of the dentition Myopathy Myopia Cataract Nystagmus Dysharmonic bone age Abnormally low-pitched voice Depressivity Limited knee extension Flared femoral metaphysis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Recurrent infections Areflexia Pancytopenia Retinal degeneration Type II diabetes mellitus Peripheral demyelination Hip dysplasia Otitis media Decreased antibody level in blood Gliosis Progressive cerebellar ataxia Highly arched eyebrow Confusion Recurrent respiratory infections Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Corneal opacity Respiratory tract infection Anxiety Arthritis Osteopenia Kinetic tremor


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