Hydrocephalus, and Intellectual disability, severe

Diseases related with Hydrocephalus and Intellectual disability, severe

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

Top matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Other less relevant matches:

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

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

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

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

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Top 5 symptoms//phenotypes associated to Hydrocephalus and Intellectual disability, severe

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

Other less frequent symptoms

Patients with Hydrocephalus and Intellectual disability, severe. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Macrocephaly Holoprosencephaly Agenesis of corpus callosum Generalized hypotonia Aqueductal stenosis Coarse facial features Strabismus Hypertonia Hyperreflexia Hypertelorism Flexion contracture Spastic paraplegia Short stature Absent speech Motor delay Dilatation Polymicrogyria

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Poor head control Flexion contracture of thumb Abnormality of the skeletal system Absent septum pellucidum Hemiplegia/hemiparesis Adducted thumb Neoplasm Profound global developmental delay Talipes equinovarus Intellectual disability, profound Cerebellar hypoplasia Increased intracranial pressure Macrotia Paraplegia Joint stiffness Babinski sign Intellectual disability, progressive Cryptorchidism Cerebellar vermis hypoplasia Spastic tetraplegia Nystagmus Mental deterioration Cataract Hypoplasia of the corpus callosum Microphthalmia Focal-onset seizure Hydranencephaly Muscular hypotonia High palate Upslanted palpebral fissure Single median maxillary incisor Anteverted nares Scaphocephaly First degree atrioventricular block Ptosis Cyclopia Facial cleft Abnormal hair quantity Abnormality of digit Cleft palate Depressed nasal bridge Microcornea Short nose Narrow forehead Coloboma Broad forehead Absent thumb Hypermetropia Synophrys Trigonocephaly Astigmatism Proboscis Deep philtrum Exotropia Oral cleft Hypotelorism Midface retrusion Myotonia Small posterior fossa Cerebral palsy Talipes Bulbous nose Thick vermilion border Highly arched eyebrow Tetraplegia Prominent nose Febrile seizures Mask-like facies Wide mouth Spastic diplegia Facial hypotonia Loss of ability to walk Simple febrile seizures Respiratory distress Abnormality of cardiovascular system morphology Facial palsy Hip dislocation Short philtrum Apnea Exencephaly Bilateral cryptorchidism Short neck Abnormality of the upper urinary tract Hyporeflexia Micropenis EMG abnormality Retrognathia Small hand Visceromegaly Muscular hypotonia of the trunk Oxycephaly Esodeviation Testicular atrophy Abnormality of the endocrine system Non-midline cleft lip Hearing impairment Wide nasal bridge Neonatal hypotonia Abnormal facial shape Clear cell renal cell carcinoma Yellow-brown discoloration of the teeth High myopia Respiratory failure Corneal opacity Muscular dystrophy Abnormality of the cerebral white matter Retinal dystrophy Cerebral calcification Leukodystrophy Elevated serum creatine phosphokinase Lissencephaly Congenital muscular dystrophy Buphthalmos Cerebellar cyst Agyria Proptosis Prominent nasal bridge Glaucoma Myopathy Generalized myoclonic seizures Prominent forehead Behavioral abnormality Sleep disturbance Heterotopia Blindness Vomiting Headache Irritability Myopia Stroke Spontaneous abortion Arnold-Chiari malformation Communicating hydrocephalus Dilated fourth ventricle Intraventricular hemorrhage Normal pressure hydrocephalus Small for gestational age Brain atrophy Abnormality of dental color Epileptic encephalopathy Encephalopathy Dementia EEG abnormality Developmental regression Severe global developmental delay Smooth philtrum Hypsarrhythmia Failure to thrive Progressive neurologic deterioration Broad thumb Hypoplasia of dental enamel Hypohidrosis Abnormality of dental enamel Coarse hair Amelogenesis imperfecta Cerebral atrophy Ataxia Sloping forehead Self-mutilation Tetraparesis Pachygyria Knee flexion contracture Hypoplasia of the brainstem Athetosis Multiple joint contractures Generalized amyotrophy Severe hydrocephalus Noncommunicating hydrocephalus Cognitive impairment Carcinoma Abnormal pyramidal sign Paraparesis Spastic paraparesis Renal cell carcinoma Corticospinal tract hypoplasia Hernia of the abdominal wall


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