Hydrocephalus, and Hyperactivity

Diseases related with Hydrocephalus and Hyperactivity

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

Top matches:

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Medium match BETA-MANNOSIDOSIS

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hyperactivity

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Hypoplasia of the corpus callosum Macrocephaly Behavioral abnormality Absent speech Muscular hypotonia Ventriculomegaly Aggressive behavior Autism Autistic behavior Dilatation Short stature Downslanted palpebral fissures Generalized tonic-clonic seizures Feeding difficulties Hypertonia Anxiety Prominent forehead Cognitive impairment Ataxia High palate Upslanted palpebral fissure Atrial septal defect Frontal bossing Abnormal facial shape Hypertelorism Impulsivity Strabismus Low-set ears Delayed speech and language development Failure to thrive Optic atrophy Spasticity Hyperreflexia Arnold-Chiari type I malformation

Rare Symptoms - Less than 30% cases

Coarse facial features Ptosis Intellectual disability, mild Agenesis of corpus callosum Intellectual disability, moderate Syringomyelia Scoliosis Arnold-Chiari malformation Neurological speech impairment Motor delay Cerebral cortical atrophy Glaucoma Dysphagia Cryptorchidism Short nose Laryngomalacia Brachycephaly Anteverted nares Thin upper lip vermilion Hypertension Apnea Everted lower lip vermilion Overgrowth High forehead Severe global developmental delay Cerebral calcification Hip dysplasia Spastic tetraplegia Open mouth Epileptic encephalopathy Long eyelashes Relative macrocephaly Myoclonus Dandy-Walker malformation Encephalopathy Slow-growing hair Megalencephaly Deep palmar crease Dysarthria Peripheral neuropathy Tetralogy of Fallot Schizophrenia Nystagmus Specific learning disability Flexion contracture Muscle weakness Small posterior fossa Loose anagen hair Hearing impairment Hallucinations Sparse scalp hair Redundant skin Hypertrophic cardiomyopathy Gastroesophageal reflux Hypospadias Arthrogryposis multiplex congenita Ventricular septal defect Short neck Abnormal heart morphology Skeletal muscle atrophy Posteriorly rotated ears Polyhydramnios Constrictive median neuropathy Nasal speech Joint laxity Abnormal cardiac septum morphology Pulmonic stenosis Ichthyosis Webbed neck Growth hormone deficiency Eczema Hip dislocation Hyperpigmentation of the skin Talipes equinovarus Angiokeratoma corporis diffusum Tremor Short chin Jaundice Hydronephrosis Craniosynostosis Retinopathy Broad forehead Facial asymmetry Thin vermilion border Polymicrogyria Vesicoureteral reflux Urinary incontinence Pigmentary retinopathy Renal hypoplasia Aplasia/Hypoplasia of the corpus callosum Polydactyly Abnormality of the urinary system Sparse eyebrow Overfolded helix Obsessive-compulsive behavior Cutis marmorata Absent septum pellucidum Narrow nose Arachnoid cyst Broad face Metopic synostosis Ureterocele Intraventricular hemorrhage Craniofacial asymmetry Narrow mouth Inguinal hernia Cerebral atrophy Proximal amyotrophy Recurrent infections Abnormality of metabolism/homeostasis Babinski sign Recurrent respiratory infections Hepatosplenomegaly Lower limb muscle weakness Unsteady gait Intention tremor Narrow palpebral fissure Spastic tetraparesis Stridor Neurodevelopmental delay Pendular nystagmus Communicating hydrocephalus Hernia Tics Demyelinating peripheral neuropathy Subcortical cerebral atrophy Thenar muscle atrophy Angiokeratoma Urinary glycosaminoglycan excretion Progressive macrocephaly Phonic tics Tortuosity of conjunctival vessels Aspartylglucosaminuria Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Abnormality of the skeletal system Cataract Abnormality of vision Advanced ossification of carpal bones Limb ataxia Abnormality of the nervous system Irritability Lethargy Neutropenia Coma Chorea Aciduria Intellectual disability, profound Hypsarrhythmia Choreoathetosis Leukopenia Acidosis Poor suck Spastic diplegia Infantile spasms Weak cry Restlessness Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Neonatal hypotonia Hyporeflexia Episodic ketoacidosis Macrotia Kyphosis Midface retrusion Deeply set eye Developmental regression Synophrys Thick eyebrow Highly arched eyebrow Cerebellar vermis hypoplasia Mild microcephaly Duplication of thumb phalanx EEG abnormality Visual loss Muscular hypotonia of the trunk Short philtrum Tetraplegia Prominent nose Hypotelorism Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Intellectual disability, severe Vomiting Thrombocytopenia Nonketotic hyperglycinemia Recurrent singultus Shyness Mandibular prognathia Capillary hemangioma Heterochromia iridis Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Hemianopia Visceral angiomatosis Conjunctival telangiectasia Abnormal choroid morphology Malar flattening Obesity Long face Pulmonary embolism Hirsutism Recurrent otitis media Pointed chin Polycystic ovaries Slurred speech Large hands Polyphagia Long nose High anterior hairline Long foot Menstrual irregularities Hearing abnormality Hyperostosis Pill-rolling tremor Paraparesis Depressed nasal bridge Long philtrum Hypothyroidism Hypoglycemia Protruding ear Inability to walk Delayed myelination Apraxia Clumsiness Postnatal microcephaly Bradycardia Hyperbilirubinemia Corneal dystrophy Inverted nipples Pontocerebellar atrophy Ganglioneuroblastoma Blindness Abnormality of the eye Stroke Abnormality of eye movement Iris coloboma Retinal detachment Gingival overgrowth Venous thrombosis Partial absence of the septum pellucidum


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