Dysarthria, and Sinusitis

Diseases related with Dysarthria and Sinusitis

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

Top matches:

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Other less relevant matches:

Low match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Renal insufficiency
  • Recurrent respiratory infections
  • Rod-cone dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Top 5 symptoms//phenotypes associated to Dysarthria and Sinusitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Strabismus Scoliosis Generalized hypotonia Recurrent respiratory infections Ataxia Otitis media Anxiety Macrocephaly Global developmental delay Frontal bossing Neurological speech impairment Decreased antibody level in blood Bronchiectasis Microcephaly Short stature Abnormal facial shape Depressed nasal bridge Flexion contracture Muscular hypotonia Chronic sinusitis Hypertelorism Growth delay Recurrent infections Sensorineural hearing impairment Respiratory tract infection Hearing impairment Recurrent bronchitis Recurrent pneumonia Growth hormone deficiency Intellectual disability, moderate Hyperkinesis Neoplasm

Rare Symptoms - Less than 30% cases

Atrial septal defect Cataract Short neck Short nose Schizophrenia Hypospadias Cerebral cortical atrophy Constipation Rod-cone dystrophy Narrow chest Motor delay Premature birth Talipes Brachydactyly Absence seizures Flat occiput Dyskinesia Recurrent otitis media Recurrent upper respiratory tract infections Recurrent lower respiratory tract infections Reduced tendon reflexes Fatigue Choreoathetosis Pancytopenia Talipes equinovarus High palate Low-set ears Autism Overgrowth Midface retrusion Abdominal distention Infertility Dolichocephaly Small for gestational age Pectus excavatum Hypogonadism Severe short stature Congestive heart failure Ventriculomegaly Mandibular prognathia Premature ovarian insufficiency Macrotia High forehead Gastroesophageal reflux Pes planus Intrauterine growth retardation Autistic behavior Attention deficit hyperactivity disorder Wide nasal bridge Facial asymmetry Micrognathia Cryptorchidism Type II diabetes mellitus Postural instability Chorea Telangiectasia Delayed puberty Leukemia Pain Migraine Edema Hyperreflexia Apraxia Leukodystrophy Headache Diabetes mellitus Myoclonus Pneumonia Immunodeficiency Dystonia Gait disturbance Cognitive impairment Behavioral abnormality Progressive visual loss Cirrhosis Abnormality of movement Elevated hepatic transaminase Retinopathy Visual loss Drooling Microphthalmia Agenesis of corpus callosum Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Cerebral atrophy Syndactyly Osteoporosis Long philtrum Nausea Intellectual disability, mild Abnormality of the dentition Hydrocephalus Anteverted nares Ventricular septal defect Downslanted palpebral fissures Optic atrophy Epicanthus Prominent forehead Hypothyroidism Generalized myoclonic seizures Postnatal growth retardation Tachycardia Anal atresia Smooth philtrum Toe syndactyly Hip dislocation Finger syndactyly Skin rash Abnormal cardiac septum morphology Coloboma Craniosynostosis Feeding difficulties in infancy Dementia Camptodactyly Low-set, posteriorly rotated ears Telecanthus Reduced visual acuity Hydronephrosis Hypoglycemia Thin upper lip vermilion Retrognathia Poor speech Osteopenia Inability to walk Meningitis Disproportionate short-limb short stature Bell-shaped thorax Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Recurrent urinary tract infections Short femur Rhizomelia Radial bowing Loss of speech Abnormality of the outer ear Short humerus Atonic seizures Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Aspiration Clubbing Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Long clavicles Aplasia/Hypoplasia of the ulna Ptosis Limb undergrowth Recurrent Haemophilus influenzae infections Muscle stiffness Immotile cilia Short metacarpal Recurrent ear infections Hypoxemia High-frequency hearing impairment Atelectasis Bronchitis Ciliary dyskinesia Iris coloboma Laryngeal stenosis Visual impairment Lumbar hyperlordosis Encephalocele Confusion Renal insufficiency Joint dislocation Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Bruising susceptibility Eczema Single transverse palmar crease Sepsis Autoimmune antibody positivity Decreased circulating cortisol level Recurrent hypoglycemia Vitiligo Autoimmune thrombocytopenia Thyroiditis Recurrent sinusitis Hyperkalemia Hyponatremia Psoriasiform dermatitis Diplopia Hypotension Nail dystrophy Recurrent pharyngitis Alopecia Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Alopecia totalis Decreased circulating ACTH level Central hypothyroidism Paraplegia Paroxysmal choreoathetosis Kernicterus Paroxysmal dystonia Paroxysmal dyskinesia Facial grimacing Myokymia Episodic ataxia Trismus Encephalitis Torticollis Involuntary movements Generalized muscle weakness Spastic paraplegia Hypoglycemic coma Joint stiffness Rigidity Dyspnea Dysphagia Abnormality of the periungual region Severe B lymphocytopenia Abnormal size of pituitary gland Decreased circulating androgen level Abnormal lymphocyte morphology Severe viral infections Decreased serum insulin-like growth factor 1 Adrenocorticotropin deficient adrenal insufficiency Clitoral hypoplasia U-Shaped upper lip vermilion Microcornea Bone marrow hypocellularity Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Spina bifida Hammertoe Aortic valve stenosis Short toe Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Coarctation of aorta Hyperlordosis Dehydration Microdontia Webbed neck Intestinal malrotation Heart murmur Aplasia/Hypoplasia of the eyebrow Urethral stenosis Eyelid coloboma Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Chronic constipation Hypoplastic left heart Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Generalized tonic-clonic seizures Proteinuria Deeply set eye Blindness Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Abnormal electroretinogram Mutism Progressive hearing impairment Abnormality of dental enamel Hallucinations Clumsiness Psychosis Nyctalopia Abnormality of the eye Gait ataxia Scotoma Difficulty walking Carcinoma Abnormality of the liver Distal muscle weakness Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Decreased fertility High hypermetropia Increased sensitivity to ionizing radiation Anemia Retinal exudate Vasculitis in the skin Focal white matter lesions Cardiomyopathy Hypoplasia of the corpus callosum Progressive forgetfulness Diminished ability to concentrate Punctate vasculitis skin lesions Nystagmus Muscle weakness Hepatomegaly Peripheral neuropathy Severe hearing impairment Skeletal muscle atrophy Tremor Cerebellar atrophy Absent vestibular function Abnormal cochlea morphology Vestibular hypofunction Subcortical cerebral atrophy Hemianopia Tapetoretinal degeneration Undetectable electroretinogram Peripheral visual field loss Iris hypopigmentation Aplasia/Hypoplasia of the thymus Female hypogonadism Abnormality of the nervous system Oculomotor apraxia Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Abnormality of eye movement Truncal ataxia Multiple cafe-au-lait spots Abnormality of the hair Lymphopenia Abnormal vertebral morphology Cafe-au-lait spot Limb ataxia Unsteady gait Distal amyotrophy Intention tremor Polyneuropathy Abnormal cerebellum morphology Hepatitis Progressive cerebellar ataxia Aplasia/Hypoplasia of the skin Telangiectasia of the skin Chronic hepatitis Spinocerebellar tract degeneration Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Lymphoproliferative disorder Abnormality of the immune system Abnormality of the testis B-cell lymphoma Renal neoplasm Chromosome breakage Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Myeloid leukemia Hepatosplenomegaly Central nervous system degeneration Skeletal dysplasia Large hands Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Large forehead Macroorchidism Poor eye contact Broad palm Polyphagia Abnormality of neuronal migration Self-injurious behavior Abnormal head movements Chronic otitis media Relative macrocephaly Sensory impairment Narrow face Hyperpigmentation of the skin Heterotopia Mitral valve prolapse Round face Memory impairment Thick vermilion border Joint hypermobility Long face Shyness Periventricular gray matter heterotopia Hemiparesis Stroke Polyhydramnios Proptosis Weight loss Respiratory failure Abdominal pain Brachycephaly Lymphoma Malar flattening Mental deterioration Vomiting Respiratory distress Abnormality of the skeletal system Oppositional defiant disorder Lower limb muscle weakness Delayed speech and language development Nephropathy Cleft palate Hematuria Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Encopresis Wide mouth Protruding ear Broad forehead Epidermal acanthosis Slender long bone Pulmonary fibrosis High pitched voice Nephroblastoma Raynaud phenomenon Cachexia Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Dental crowding Pigmentary retinopathy Insulin-resistant diabetes mellitus Macular edema Cyanosis Brain neoplasm Nevus Abnormality of the retinal vasculature Triangular face Ascites Hypodontia Astigmatism Micronodular cirrhosis Retinal hemorrhage Limb pain Pericarditis Scaphocephaly Joint laxity Abnormality of the periventricular white matter Aggressive behavior Neonatal hypotonia Coarse facial features Vasculitis Leukoencephalopathy Elevated erythrocyte sedimentation rate Lower limb hyperreflexia Hyperactivity Glomerulopathy Obesity Absent speech Dilatation Microglossia Intellectual disability, severe Aseptic necrosis Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Staring gaze


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