Dysarthria, and Spina bifida

Diseases related with Dysarthria and Spina bifida

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

Top matches:

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

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

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Other less relevant matches:

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

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 12; SCA12

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8

Related symptoms:

  • Ataxia
  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8

SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar AtaxiaX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (OMIM ), SCAX3 (OMIM ), SCAX4 (OMIM ), and SCAX5 (OMIM ).

X-LINKED PROGRESSIVE CEREBELLAR ATAXIA Is also known as olivopontocerebellar atrophy, x-linked|opca, x-linked|opcax

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED PROGRESSIVE CEREBELLAR ATAXIA

Top 5 symptoms//phenotypes associated to Dysarthria and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Depressivity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Strabismus Spasticity Short stature Gait disturbance Abnormality of the dentition Abnormal heart morphology Cognitive impairment Hearing impairment Microcephaly Kyphoscoliosis Hypertension Hydrocephalus Malabsorption Scoliosis Anxiety Gait ataxia Wide nasal bridge Micrognathia Generalized hypotonia Pain Nystagmus Ptosis Global developmental delay Headache Coarctation of aorta Gastroesophageal reflux Cryptorchidism Incoordination Sensorimotor neuropathy Glaucoma Neoplasm Abnormal facial shape Delayed speech and language development Peripheral neuropathy Macrocephaly Abnormality of the skeletal system Babinski sign Intellectual disability, mild Proteinuria Brachydactyly Cerebral cortical atrophy Dysmetria Oral cleft Carious teeth Progressive cerebellar ataxia Cleft lip Dilatation Epicanthus Telecanthus Hypertelorism Cleft palate

Rare Symptoms - Less than 30% cases

Reduced bone mineral density Pectus excavatum Spinocerebellar tract degeneration Back pain Precocious puberty Motor delay Neoplasm of the endocrine system Brain neoplasm Astrocytoma Pseudoarthrosis Renovascular hypertension Action tremor Cataract Renal artery stenosis Mitral valve prolapse Muscle cramps Autism Abnormality of cardiovascular system morphology Limb ataxia Visual loss Lower limb spasticity Osteoporosis Lower limb muscle weakness Pes cavus Hyperactivity Dysphagia Slow saccadic eye movements Hypsarrhythmia Osteopenia Hypertrophic cardiomyopathy Autistic behavior Paralysis Attention deficit hyperactivity disorder Pulmonic stenosis Genu valgum Tetralogy of Fallot Abnormality of the cardiovascular system Mandibular prognathia Abdominal pain Abnormality of the voice Dysdiadochokinesis Neurological speech impairment Hypothyroidism Umbilical hernia Joint laxity Intellectual disability, moderate Celiac disease Joint stiffness Wide mouth Craniosynostosis Small for gestational age Enuresis Joint hyperflexibility Smooth philtrum Broad nasal tip Dental malocclusion Otitis media Microdontia Hypoplasia of penis Recurrent otitis media Nephrocalcinosis Constipation Clinodactyly of the 5th finger Coarse facial features Dystonia Hemiparesis Abnormality of the fingernails Hypogonadotrophic hypogonadism Hemivertebrae Spina bifida occulta Nephritis Parkinsonism Sprengel anomaly Dementia Down-sloping shoulders Delayed skeletal maturation Cerebellar atrophy Arthralgia Villous atrophy Abnormality of the neck Curved fingers Growth delay Behavioral abnormality Atrial septal defect Inguinal hernia Intrauterine growth retardation Feeding difficulties in infancy Muscular hypotonia Milia Low-set ears High palate Downslanted palpebral fissures Frontal bossing Renal insufficiency Postaxial polydactyly Syndactyly Clinodactyly Agenesis of permanent teeth Delusions Polydactyly Abnormality of the kidney Sparse hair Abnormal cortical gyration Unsteady gait Abnormality of the eye EEG abnormality Hypertonia Insomnia Facial asymmetry Underdeveloped nasal alae Visual impairment Portal hypertension Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Redundant skin Ventricular septal defect Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Abnormality of pelvic girdle bone morphology Adducted thumb Arnold-Chiari malformation Schizophrenia Obsessive-compulsive behavior Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Cutis laxa Abnormality of dental enamel Pointed chin Increased body weight Increased bone mineral density Narrow face Hoarse voice Chronic otitis media Abnormality of dental morphology Unilateral renal agenesis Depressed nasal bridge Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Respiratory distress Restlessness Facial cleft Prematurely aged appearance High hypermetropia Vertebral segmentation defect Myopia Premature graying of hair Hallux valgus Open bite Loss of consciousness Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Aortic valve stenosis Gingival overgrowth Bifid uvula Elevated serum creatine phosphokinase Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Absent speech Nausea and vomiting Hernia Obesity Corneal opacity Broad forehead Stroke Patent ductus arteriosus Abnormal cardiac septum morphology Cerebellar hypoplasia Macroglossia Scarring Blepharophimosis Protruding ear Irritability Hyperlordosis Developmental regression Recurrent respiratory infections Low-set, posteriorly rotated ears Diabetes mellitus Pes planus Abnormal cerebellum morphology Macrotia High forehead Micropenis Hypodontia Full cheeks Amblyopia Congestive heart failure Nephrolithiasis Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Myocardial infarction Thick lower lip vermilion Small nail Chronic constipation Renal hypoplasia Ventricular hypertrophy Myopathy Kyphosis Midface retrusion Type II diabetes mellitus Cardiomegaly Abnormality of extrapyramidal motor function Hypotelorism Narrow forehead Dehydration Short nose Long philtrum Malar flattening Renal agenesis Esotropia Vesicoureteral reflux Chest pain Sudden cardiac death Blindness Decreased plasma carnitine Right ventricular hypertrophy Postural tremor Paraplegia Spastic paraplegia Difficulty walking Abnormal cell morphology Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Abnormality of the spinocerebellar tracts Abnormality of the substantia nigra Olivopontocerebellar hypoplasia Cerebral white matter atrophy Supranuclear ophthalmoplegia Kinetic tremor Hyperactive deep tendon reflexes Ophthalmoparesis Fasciculations Spastic gait Chorea Hyporeflexia Facial myokymia Limb tremor Axial dystonia Myokymia Alopecia Head tremor Agenesis of corpus callosum Abnormality of eye movement Abnormality of the cerebral white matter Stage 5 chronic kidney disease Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Urinary incontinence Clonus Functional abnormality of male internal genitalia Abnormal pyramidal sign Difficulty standing Saccadic smooth pursuit Spastic dysarthria Distal lower limb amyotrophy Progressive gait ataxia EMG: neuropathic changes Axonal loss Cerebellar vermis atrophy Lower limb hyperreflexia Foot dorsiflexor weakness Frequent falls Clumsiness Intention tremor Limb muscle weakness Neonatal hypotonia EMG abnormality Abnormal lower-limb motor evoked potentials Progressive pes cavus Spinal cord lesion Limb dysmetria Abnormality of the cerebrospinal fluid Peroneal muscle atrophy Upper limb spasticity Degeneration of the lateral corticospinal tracts Low back pain Urinary bladder sphincter dysfunction Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Progressive spasticity Urinary urgency Descending aorta hypoplasia Stellate iris Tubulointerstitial nephritis Periorbital edema Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Peptic ulcer Vascular tortuosity Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Flexion contracture Periorbital fullness Gait imbalance Abnormality of refraction Cerebral ischemia Dyslexia Abnormality of the cerebral vasculature Large earlobe Colonic diverticula Abnormality of the ankles Dyssynergia Supravalvular aortic stenosis Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Flat cornea Tubulointerstitial abnormality Abnormal social behavior Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Feeding difficulties Enlarged naris Sensorineural hearing impairment Aciduria Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Abnormal blistering of the skin Migraine Single ventricle Psychosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Brow ptosis Hepatic steatosis Rhabdomyosarcoma Nevus Melanocytic nevus Diarrhea Glomerulonephritis Relative macrocephaly Neoplasm of the skin Photophobia Muscle stiffness Short ribs Bradycardia Hyperpigmentation of the skin Exotropia Abnormality of the ribs Cerebral calcification Hypotension Palmoplantar keratoderma Cirrhosis Skin rash Microphthalmia Vertigo Brachycephaly Proptosis Confusion Retrognathia Carcinoma Iris coloboma Facial palsy Coloboma Papule Hypotrichosis Arachnodactyly Cleft upper lip Nasolacrimal duct obstruction Carcinoid tumor Disproportionate tall stature Bruxism Bone pain Cafe-au-lait spot Aganglionic megacolon Emotional lability Irregular hyperpigmentation Gingivitis Overgrowth Specific learning disability Gastrointestinal hemorrhage Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Episodic ataxia Abnormality of vision Hyperphenylalaninemia Respiratory insufficiency Anemia Neutral hyperaminoaciduria Grasp reflex Weight loss Glabellar reflex Neural tube defect Pruritus Hypoglycemia Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Leukemia Encephalitis Atherosclerosis Paraganglioma Severe vision loss Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Cutaneous photosensitivity Inflammatory abnormality of the skin Myocardial fibrosis Chronic diarrhea Meningioma Gangrene Increased reactive oxygen species production Overweight Renal cell carcinoma Venous thrombosis Clitoral hypertrophy Hypopigmented skin patches Breast carcinoma Aminoaciduria Sarcoma Hallucinations Diplopia Sensory axonal neuropathy Osteomalacia Hypophosphatemia Pulmonary fibrosis Neurofibromas Tibial bowing Freckling Multiple cafe-au-lait spots Inflammation of the large intestine Basal cell carcinoma Failure to thrive Apraxia Microretrognathia Nasal speech Abnormality of the hand Cutaneous syndactyly Polycystic kidney dysplasia Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Broad thumb Radial deviation of finger Short palpebral fissure Low posterior hairline Interphalangeal joint contracture of finger Molar tooth sign on MRI Language impairment Bulbous nose Arachnoid cyst Hypermetropia Poor speech Median cleft lip Increased number of teeth Thin vermilion border Hirsutism Nephronophthisis Downturned corners of mouth Small hand Hypoplasia of the maxilla Triangular face Atrioventricular canal defect Prominent nose Trigonocephaly Clubbing Prominent nasal bridge Tethered cord Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Cardiomyopathy Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Spinal dysraphism Stiff neck Broad columella Impulsivity Cone-shaped epiphyses of the phalanges of the hand Preauricular pit High pitched voice Hepatic fibrosis Proportionate short stature Short clavicles Lipoma Short columella Hyperextensibility of the finger joints Abnormality of the clavicle Short attention span Hypoplasia of dental enamel 11 pairs of ribs Enlarged joints Speech apraxia Myelomeningocele Short philtrum Long fingers Hamartomatous polyposis Bifid ribs Abnormality of toe Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Cervical ribs Odontogenic keratocysts of the jaw Fragile nails Vertebral fusion Colitis Abnormality of the sternum Thoracic scoliosis Fever Narrow nose Skin tags Supernumerary ribs Short 4th metacarpal Trident hand Broad face Ulcerative colitis Medulloblastoma Ectopic calcification Cardiac rhabdomyoma Ovarian fibroma Camptodactyly of finger Upslanted palpebral fissure Bifid tongue Abnormality of the pancreas Postnatal growth retardation Ovarian cyst Dry hair Porencephalic cyst Aggressive behavior Arthritis Hydronephrosis Conductive hearing impairment Deeply set eye Thin upper lip vermilion Hepatic cysts Pancreatic cysts Posteriorly rotated ears Plantar pits Short neck Bridged sella turcica Cardiac fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Deviation of finger Vomiting Hypospadias Hypothalamic hamartoma Tongue nodules Lobulated tongue Narrow naris Decreased/absent ankle reflexes


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