Hydrocephalus, and Progressive hearing impairment

Diseases related with Hydrocephalus and Progressive hearing impairment

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Progressive hearing impairment that can help you solving undiagnosed cases.

Top matches:

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Medium match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Other less relevant matches:

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Low match FRIED SYNDROME

Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRIED SYNDROME

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental 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). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Top 5 symptoms//phenotypes associated to Hydrocephalus and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Progressive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cataract Sensorineural hearing impairment Muscular hypotonia Skeletal muscle atrophy Congestive heart failure Coarse facial features Hypertelorism Polymicrogyria Short stature Heterotopia Hepatomegaly Frontal bossing Optic atrophy Arrhythmia Abnormal facial shape Cerebellar hypoplasia Wide nasal bridge Ptosis Cardiomyopathy Visual loss Mental deterioration Apnea Neonatal hypotonia Nyctalopia Severe global developmental delay Encephalocele Hemiplegia Generalized hypotonia Renal cyst High palate Ventriculomegaly Abnormal cerebellum morphology Nystagmus Gait disturbance Short neck Dyspnea Kyphosis Abnormality of the cardiovascular system Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Blindness Ichthyosis Abnormality of peripheral nerve conduction Rod-cone dystrophy Hyporeflexia Progressive visual loss Peripheral neuropathy Hip dysplasia Polyneuropathy Ataxia Cardiomegaly Cerebral calcification Progressive neurologic deterioration Neurodegeneration Pigmentary retinopathy Sensory impairment Tetraplegia Wide mouth Stroke Spastic tetraplegia Umbilical hernia Dolichocephaly Carious teeth Paraplegia Thick vermilion border Spastic paraplegia Bilateral ptosis Retinal degeneration Hirsutism Abnormality of the pinna Split hand Hypertrichosis Decreased body weight Kyphoscoliosis Anteverted nares Cerebellar atrophy Dilatation Hypospadias Abnormality of the skeletal system Coma Delayed skeletal maturation Thickened calvaria Hypoplasia of the corpus callosum Edema Talipes Abnormality of the cerebral white matter Abnormality of the liver Feeding difficulties in infancy Behavioral abnormality Decreased nerve conduction velocity Aplasia/Hypoplasia of the cerebellum Aggressive behavior Thickened skin Left ventricular hypertrophy Seborrheic dermatitis Proptosis Gingival overgrowth Exotropia Failure to thrive Generalized hirsutism Inguinal hernia Prominent forehead Visual impairment Primary adrenal insufficiency Cortical dysplasia Cerebral palsy Epicanthus Talipes equinovarus Occipital encephalocele Hepatosplenomegaly Developmental regression Gray matter heterotopias Feeding difficulties Flexion contracture Cognitive impairment Pulmonary arterial hypertension Recurrent otitis media Growth delay Scoliosis Short philtrum Spastic diplegia Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine J-shaped sella turcica Hypertension Microcephaly Motor delay Communicating hydrocephalus Beaking of vertebral bodies Hyperreflexia Abnormality of the skull Hypertonia Protuberant abdomen Distal arthrogryposis Protruding tongue Heart murmur Recurrent upper respiratory tract infections Increased intracranial pressure Mitral regurgitation Delayed speech and language development Micrognathia Abnormal nerve conduction velocity Bilateral sensorineural hearing impairment Elevated hepatic transaminase Osteopenia Abdominal pain Pes cavus Pneumonia Constipation Joint stiffness Depressivity Limitation of joint mobility Low-set ears Headache Long philtrum Retrognathia Abnormality of the dentition Diarrhea Ascites Macroglossia Respiratory insufficiency Vomiting Atrial fibrillation Ischemic stroke Hemiparesis Sudden cardiac death Ragged-red muscle fibers Abnormality of retinal pigmentation Involuntary movements Psychosis Hallucinations Migraine Hypopigmented skin patches Nephrotic syndrome Cerebral visual impairment Generalized-onset seizure Ventricular hypertrophy External ophthalmoplegia Reduced tendon reflexes Increased serum lactate Memory impairment Facial hypotonia EMG abnormality Hypogonadotrophic hypogonadism Anorexia Type I diabetes mellitus Type II diabetes mellitus Loss of ability to walk Cardiac arrest Exercise intolerance Truncal ataxia Status epilepticus Specific learning disability Macular degeneration Amenorrhea Clonus Pancreatitis Purpura Bulbous nose Generalized myoclonic seizures Diabetes mellitus Myalgia EEG abnormality Photophobia Jaundice Gastroesophageal reflux Acidosis Hypothyroidism Autism Weight loss Gait ataxia Cerebral cortical atrophy Hypogonadism Proteinuria Osteoporosis Myoclonus Dementia Elevated serum creatine phosphokinase Areflexia Encephalopathy Cerebral atrophy Renal insufficiency Dystonia Myopathy Respiratory distress Anxiety Hypertrophic cardiomyopathy Muscle cramps Malabsorption Postural instability Nephropathy Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Nausea and vomiting Protruding ear Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment Attention deficit hyperactivity disorder Erythema Schizophrenia Mutism Drowsiness Goiter Abnormal macular morphology Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Hemeralopia Morphological abnormality of the inner ear Spontaneous hematomas Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Gastroparesis Crohn's disease Amaurosis fugax Auditory hallucinations Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Morphological abnormality of the vestibule of the inner ear Prominent ear helix Episodic vomiting Sacral dimple Cleft palate Patent ductus arteriosus Polydactyly Micropenis Postaxial polydactyly Narrow palpebral fissure Molar tooth sign on MRI Long face Anencephaly Spasticity Intellectual disability, severe Absent speech Babinski sign Muscular hypotonia of the trunk Abnormality of the optic nerve Poor speech Muscular dystrophy Type II lissencephaly Absence seizures Lissencephaly Leukoencephalopathy Hypoplasia of the brainstem Infantile spasms Porencephalic cyst Right hemiplegia Highly arched eyebrow Macrotia Febrile seizures Intellectual disability, moderate Autistic behavior Focal-onset seizure Prominent nose Motor polyneuropathy Abnormality of the renal tubule Hyperkinesis Abnormality of neuronal migration Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Rhabdomyolysis Aortic aneurysm Easy fatigability Growth abnormality Chronic kidney disease Atrioventricular block Cachexia Hypercalciuria Abnormality of mitochondrial metabolism Hemiplegia/hemiparesis Hyponatremia Ophthalmoparesis Personality changes Intestinal obstruction Bifid scrotum Mask-like facies Hyperthyroidism Thyroiditis Hemianopia Gait imbalance Tubulointerstitial nephritis Visual hallucinations Dysphagia Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Anterior hypopituitarism Aortic dissection Stroke-like episode Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Proximal tubulopathy Ileus Renal tubular dysfunction Facial diplegia Abnormality of immune system physiology Xerostomia Pulmonary embolism Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Heart block Cardiorespiratory arrest Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Increased CSF lactate Abdominal distention Fatigue Hyperammonemia Arthropathy Abnormal heart valve morphology Restrictive ventilatory defect Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Metatarsus adductus Toe walking Stridor Language impairment Back pain Prominent supraorbital ridges Sleep apnea Rhinitis Corneal dystrophy Widely spaced teeth Aortic regurgitation Coxa vara Opacification of the corneal stroma Abnormality of dental enamel Spastic paraparesis Coxa valga Elbow flexion contracture Abnormal vertebral morphology Abnormality of epiphysis morphology Long eyelashes Chronic diarrhea Spinal canal stenosis Thoracic scoliosis Myocardial infarction Upper airway obstruction Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Large earlobe Short clavicles Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Obstructive sleep apnea Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Peripheral visual field loss Palpebral edema Hypoplasia of the odontoid process Abnormal form of the vertebral bodies Interphalangeal joint contracture of finger Myelopathy Hypochromic anemia Splenomegaly Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Short digit Anisopoikilocytosis Morphological abnormality of the central nervous system Obstructive lung disease Abnormality of the optic disc Hyperplasia of the maxilla Inspiratory stridor Recurrent respiratory infections Thoracolumbar kyphosis Increased mean corpuscular volume Edema of the lower limbs Insomnia Pericardial effusion Tachypnea Abnormality of the face Mitral valve prolapse Cyanosis Tachycardia Postnatal growth retardation Mandibular prognathia Hyperactivity Hernia Glaucoma Intellectual disability, profound Wide nose Lumbar hyperlordosis Abnormality of the ribs Microdontia Abnormality of the skin Asthma Full cheeks Broad nasal tip Delayed eruption of teeth Sleep disturbance Everted lower lip vermilion High, narrow palate Inability to walk Thick eyebrow Skeletal dysplasia Abnormality of skin pigmentation Dry skin Genu valgum Abnormality of eye movement Synophrys Corneal opacity Pectus carinatum Abnormal pyramidal sign Camptodactyly of finger Retinopathy Craniosynostosis Pallor Conductive hearing impairment Sagittal craniosynostosis Rhinorrhea Tremor Thoracic hypoplasia Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Delayed cranial suture closure Generalized cerebral atrophy/hypoplasia Decreased muscle mass Hammertoe Aspiration Large fontanelles Pachygyria Cholestasis Peripheral demyelination Gliosis Hepatic steatosis High forehead Polyhydramnios Upslanted palpebral fissure Pectus excavatum Calcific stippling Limb muscle weakness Delayed ossification of the hand bones Partial agenesis of the corpus callosum Fever Dysarthria Anemia Pain Muscle weakness Large foramen magnum Dysplastic corpus callosum Prelingual sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Arachnoid cyst Severe sensorineural hearing impairment Congenital sensorineural hearing impairment Leukodystrophy Agenesis of corpus callosum Intellectual disability, mild Elevated levels of phytanic acid Hyperoxaluria Short fourth metatarsal Abnormal renal physiology Miosis Multiple epiphyseal dysplasia Increased CSF protein Epiphyseal stippling Epiphyseal dysplasia Anosmia Sensorimotor neuropathy Strabismus Abnormal mandibular ramus morphology Broad femoral neck Flared nostrils Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva Prominent sternum Anterior rib cupping Large sella turcica Narrow pelvis bone Short mandibular rami Meckel diverticulum Anterior open bite Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Hernia of the abdominal wall Cervical kyphosis Abnormality of premolar morphology Delayed tarsal ossification Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Abnormality of joint mobility Abnormal CNS myelination Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Lumbar kyphosis Simple febrile seizures


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