Hydrocephalus, and Focal seizures, afebril

Diseases related with Hydrocephalus and Focal seizures, afebril

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Focal seizures, afebril 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

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Other less relevant matches:

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

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

PAPILLOMA OF CHOROID PLEXUS Is also known as cpp|choroid plexus papilloma

Related symptoms:

  • Seizures
  • Neoplasm
  • Cognitive impairment
  • Visual impairment
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

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

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC Is also known as methylmalonic aciduria with homocystinuria, type cblc|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc|cobalamin c defect|cblc defect

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Fatigue
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC

Top 5 symptoms//phenotypes associated to Hydrocephalus and Focal seizures, afebril

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

Other less frequent symptoms

Patients with Hydrocephalus and Focal seizures, afebril. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Focal-onset seizure Macrocephaly Spasticity Dilatation Intellectual disability, severe Behavioral abnormality Hearing impairment Short stature

Rare Symptoms - Less than 30% cases

Tachypnea Generalized hypotonia Hypoplasia of dental enamel Abnormality of the kidney Agenesis of corpus callosum Renal cyst Sleep disturbance Cerebellar hypoplasia Absent speech Motor delay Failure to thrive Developmental regression Polymicrogyria Nevus Coarse facial features Hyperactivity Hypertonia Neoplasm Dyspnea Intellectual disability, mild Abnormality of the skeletal system Renal insufficiency Infantile spasms Cardiomegaly Simple febrile seizures Gliosis Brain atrophy Specific learning disability Cerebral palsy Cerebral calcification Generalized-onset seizure Loss of ability to walk Facial hypotonia Subcutaneous nodule Cafe-au-lait spot CNS hypomyelination Renal cell carcinoma Spastic diplegia Precocious puberty Aortic aneurysm Nephroblastoma Hamartoma Polycystic kidney dysplasia Headache Pain Skin rash Glaucoma Respiratory failure Autism Hypothyroidism Carcinoma Intellectual disability, moderate Irritability Autistic behavior Hyperventilation Congestive heart failure Hypertension Attention deficit hyperactivity disorder Stroke Cough Abnormality of the cerebral white matter Nausea Retinal detachment Hypopigmentation of the skin Vomiting Arrhythmia Chest pain Respiratory distress Wolff-Parkinson-White syndrome Skin tags Congenital sensorineural hearing impairment Choroid plexus papilloma Profound global developmental delay Ventricular septal defect Polydactyly Polyhydramnios Postaxial polydactyly Premature birth Nephrotic syndrome Renal corticomedullary cysts Periventricular gray matter heterotopia Sensorineural hearing impairment Abnormal facial shape Hypoplasia of the corpus callosum Bilateral sensorineural hearing impairment Cortical dysplasia Hemiplegia/hemiparesis Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Arachnoid cyst Colpocephaly Cerebellar dysplasia Prelingual sensorineural hearing impairment Dysplastic corpus callosum Gray matter heterotopias Large foramen magnum Fatigue Pallor Retinopathy Lethargy Anorexia Abnormality of nervous system morphology Visual impairment Abnormality of the respiratory system Premature chromatid separation Generalized hypopigmentation Renal neoplasm White hair Febrile seizures Brain neoplasm Astrocytoma Pneumothorax Gingival fibromatosis Chylothorax Fibroma Adenoma sebaceum Flank pain Shagreen patch Ependymoma Renal angiomyolipoma Cognitive impairment Chordoma Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Cortical tubers Angiofibromas Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Spastic tetraplegia Babinski sign Prominent nose Thoracolumbar kyphosis Increased intracranial pressure Recurrent upper respiratory tract infections Heart murmur Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Edema of the lower limbs Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Inspiratory stridor Thickened skin Hypochromic anemia Hyperplasia of the maxilla Abnormality of the optic disc J-shaped sella turcica Obstructive lung disease Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Anisopoikilocytosis Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Intervertebral space narrowing Progressive hearing impairment Abnormality of the face Dysplastic aortic valve Kyphoscoliosis Low-set ears Depressed nasal bridge Hepatomegaly Optic atrophy Frontal bossing Anteverted nares Short neck Edema Kyphosis Inguinal hernia Prominent forehead Proptosis Mandibular prognathia Umbilical hernia Mitral regurgitation Hepatosplenomegaly Aggressive behavior Postnatal growth retardation Joint stiffness Tachycardia Ascites Macroglossia Limitation of joint mobility Cyanosis Abnormality of the cardiovascular system Mitral valve prolapse Pulmonary arterial hypertension Recurrent otitis media Localized skin lesion Tetraplegia High palate Hypsarrhythmia Intellectual disability, profound Cerebellar vermis hypoplasia Progressive neurologic deterioration Broad thumb Hypohidrosis Abnormality of dental enamel Coarse hair Amelogenesis imperfecta Abnormality of dental color Yellow-brown discoloration of the teeth Hypertelorism Flexion contracture Hyperreflexia Smooth philtrum Wide nasal bridge Talipes equinovarus Neonatal hypotonia Muscular hypotonia of the trunk Apnea Wide mouth Short philtrum Spastic paraplegia Paraplegia Talipes Bulbous nose Thick vermilion border Highly arched eyebrow Epileptic encephalopathy Severe global developmental delay Abnormality of nasopharyngeal adenoids Cupped ear Cleft palate Cleft lip Sparse hair Scarring Carious teeth Cleft upper lip Abnormal blistering of the skin Hemiparesis Short chin Cutis laxa Hemangioma Dermal atrophy Intracranial hemorrhage Skin vesicle Mental deterioration Aplasia cutis congenita Unilateral cleft lip Abnormality of the cheek Fragmented elastic fibers in the dermis Abnormal mast cell morphology Abnormality of buccal mucosa Abnormality of epidermal morphology Ataxia Cerebral atrophy Encephalopathy Dementia Upslanted palpebral fissure EEG abnormality Megaloblastic bone marrow


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