Hydrocephalus, and Cerebellar atrophy

Diseases related with Hydrocephalus and Cerebellar atrophy

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

Top matches:

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

Medium match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

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).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Cerebellar atrophy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Cerebellar atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cerebral atrophy

Uncommon Symptoms - Between 30% and 50% cases

Ataxia

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Spasticity Abnormal facial shape Anteverted nares Nystagmus Epicanthus Absent speech Cerebellar hypoplasia Cataract Low-set ears Feeding difficulties Short stature Depressed nasal bridge Porencephalic cyst Midface retrusion Edema Optic atrophy Hyperreflexia Strabismus Abnormality of the skeletal system Hypoplasia of the corpus callosum Apnea Progressive microcephaly Hepatosplenomegaly Dystonia Splenomegaly Dilatation Polymicrogyria Anemia Hepatomegaly Severe global developmental delay Hypertonia Hypertelorism Cognitive impairment Delayed speech and language development Pachygyria Macrotia Cerebral cortical atrophy Malar flattening Visual impairment

Rare Symptoms - Less than 30% cases

Narrow forehead Dysostosis multiplex Premature birth Nephrotic syndrome Aspiration Pneumonia Encephalopathy Retinal degeneration Intrauterine growth retardation Mental deterioration Facial paralysis Hypoplasia of the iris Cortical dysplasia Hematuria Large forehead Periorbital edema Leukodystrophy Hearing impairment Atrophy/Degeneration affecting the brainstem Muscular hypotonia Brain atrophy Abnormality of eye movement Hypsarrhythmia EEG abnormality Retrognathia Gingival overgrowth Blindness Severe muscular hypotonia Developmental stagnation Ptosis Limitation of joint mobility Flexion contracture Metaphyseal irregularity Talipes equinovarus Hernia Coarse facial features Corneal opacity Abnormality of the foot Hypopigmentation of the skin Ascites Micrognathia Abnormality of the eye Visual loss Inability to walk Scoliosis Arachnodactyly Abnormal cerebellum morphology Prominent nasal bridge High myopia Myopia Macrocephaly Postnatal microcephaly Bradycardia Hypothyroidism Delayed myelination Open mouth Pontocerebellar atrophy Upslanted palpebral fissure Prominent forehead Lymphangioma Band keratopathy Lens luxation Vitreoretinopathy Macular hypoplasia Meningocele Aplasia cutis congenita of scalp Anomalous pulmonary venous return Aplasia cutis congenita Acute lymphoblastic leukemia Calvarial skull defect Total anomalous pulmonary venous return Dysarthria Phthisis bulbi Joint stiffness Peripheral demyelination Neurodegeneration Thick eyebrow Flat face Ichthyosis Dysmetria Smooth philtrum Abnormality of the cerebral white matter Skin rash Developmental regression Abnormal vitreous humor morphology Neonatal hypotonia Dysphagia Sensorineural hearing impairment Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Occipital encephalocele Cerebellar malformation Ectopia lentis Absent septum pellucidum Visceromegaly Alopecia Patent ductus arteriosus Motor delay Frontal bossing Fetal ascites J-shaped sella turcica Vacuolated lymphocytes Conjugated hyperbilirubinemia Downslanted palpebral fissures Kyphosis Fair hair Esophageal atresia Abnormality of the thorax Posteriorly rotated ears Hydrops fetalis Cardiomegaly Glaucoma Nyctalopia Chorioretinal atrophy Abnormality of the hair Dextrocardia Broad thumb Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Narrow face Encephalocele Leukemia Thin skin Progressive visual loss Vesicoureteral reflux Retinal detachment Bulbous nose Joint hyperflexibility Congenital cataract Progressive neurologic deterioration Abnormality of the periventricular white matter Abnormality of retinal pigmentation Flat occiput Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Hypoplasia of the brainstem Adrenal hypoplasia Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Adducted thumb Hyperkinesis Lissencephaly Opacification of the corneal stroma Joint contracture of the hand Hiatus hernia Aspiration pneumonia Small nail Diffuse mesangial sclerosis Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diaphragmatic eventration Mild microcephaly Narrow nasal ridge Hand clenching Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Heterotopia Spastic tetraplegia Coarse hair Hypoplastic vertebral bodies Microphthalmia Renal insufficiency Abnormality of the dentition Vomiting Rapid neurologic deterioration Urinary glycosaminoglycan excretion Retrocerebellar cyst Mucopolysacchariduria Gastroesophageal reflux Abnormality of peripheral nerve conduction CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Increased CSF protein Proptosis Lower limb hyperreflexia Broad hallux Pes cavus Proteinuria Hypotelorism Nephropathy Oligohydramnios Sloping forehead Dandy-Walker malformation Prominent nose Chorea Gliosis Tetraplegia Sleep disturbance Talipes Muscular hypotonia of the trunk Poor speech Small for gestational age Camptodactyly of finger Retinopathy Wide mouth Irritability Abnormality of the kidney Camptodactyly Gait ataxia Inguinal hernia Mandibular prognathia Attention deficit hyperactivity disorder Thin upper lip vermilion CSF lymphocytic pleiocytosis Lymphocytosis Hypoglycemia Leukopenia Muscle stiffness Protruding ear Pancytopenia Brachydactyly Cerebral calcification Convex nasal ridge Pruritus Generalized tonic-clonic seizures Paralysis Elevated hepatic transaminase Apraxia Thrombocytopenia Cleft palate Wide nasal bridge Respiratory insufficiency Cleft lip Postaxial hand polydactyly Limb undergrowth Bifid uvula Broad nasal tip Hypoplasia of the maxilla Postaxial polydactyly Short palm Telecanthus Long philtrum Conductive hearing impairment Polydactyly Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormal heart morphology Pectus excavatum Syndactyly Severe expressive language delay Clumsiness Tremor Tachypnea Hemiparesis Intracranial hemorrhage Hemiplegia Ischemic stroke Drooling Cerebral palsy Leukoencephalopathy Exotropia Tetraparesis Dysphasia Mitral valve prolapse Muscle cramps Renal cyst Hemolytic anemia Ganglioneuroblastoma Stroke Abnormal pyramidal sign Babinski sign Cerebral hemorrhage Inverted nipples Growth delay Hyperbilirubinemia Paraparesis Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Hemianopia Primitive reflex Stroke-like episode Opisthotonus Nuclear cataract Laryngomalacia Transient ischemic attack Impulsivity Posterior embryotoxon Restlessness Limb dystonia Visual field defect Wormian bones Preaxial polydactyly High forehead Abnormal palate morphology Epileptic spasms Palpebral edema Drowsiness Biparietal narrowing Infantile spasms Tented upper lip vermilion Infantile muscular hypotonia Long face Progressive encephalopathy Intellectual disability, profound Triangular face Overgrowth Neuronal loss in central nervous system Lumbar hyperlordosis Full cheeks Tapered finger Abnormality of movement External ear malformation Edema of the lower limbs Arthrogryposis multiplex congenita Joint laxity Respiratory tract infection Kyphoscoliosis Osteopenia Elevated serum creatine phosphokinase Pes planus Congestive heart failure Difficulty walking Failure to thrive Periventricular leukomalacia Hyperlordosis Undetectable visual evoked potentials Peripheral dysmyelination Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Infantile encephalopathy Tall stature Feeding difficulties in infancy Thick corpus callosum Bifid tongue Lobulated tongue Bilateral postaxial polydactyly Accessory oral frenulum Complete atrioventricular canal defect Abnormality of the larynx Bifid nasal tip Preaxial foot polydactyly Abnormality of finger Hypoplasia of the epiglottis Postaxial foot polydactyly Arachnoid cyst Median cleft lip Natal tooth Abnormality of digit Atrioventricular canal defect Flared metaphysis Preaxial hand polydactyly Common atrium Tongue nodules Sparse eyebrow Long foot Large hands Disproportionate tall stature Myoclonus Recurrent respiratory infections Long fingers Megalencephaly Short nose Intellectual disability, severe Mesoaxial polydactyly Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Partial duplication of the phalanges of the hallux Agenesis of central incisor Talon cusp Projectile vomiting


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