Hydrocephalus, and Aggressive behavior

Diseases related with Hydrocephalus and Aggressive behavior

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

Top matches:

High 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

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

Other less relevant matches:

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

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES 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

High 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

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

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

High match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Aggressive behavior

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Muscular hypotonia Behavioral abnormality Short stature Macrocephaly Ventriculomegaly Deeply set eye Autism Attention deficit hyperactivity disorder High palate Long face Coarse facial features Autistic behavior Hearing impairment Delayed speech and language development Cryptorchidism Dandy-Walker malformation Inguinal hernia Prominent forehead Mandibular prognathia Intellectual disability, moderate Cerebral cortical atrophy Agenesis of corpus callosum Abnormal facial shape Failure to thrive Microcephaly

Rare Symptoms - Less than 30% cases

Flexion contracture Choreoathetosis Impulsivity Broad hallux Frontal bossing Strabismus Sensorineural hearing impairment Generalized tonic-clonic seizures Toe syndactyly Anxiety Hepatosplenomegaly Dilatation Abnormality of the skeletal system Self-injurious behavior Abnormal cardiac septum morphology Urinary glycosaminoglycan excretion Communicating hydrocephalus Narrow palpebral fissure Recurrent otitis media High forehead Thick vermilion border Pointed chin Cataract Bulbous nose Intellectual disability, severe Hyperreflexia Skeletal muscle atrophy Cerebral calcification Spastic diplegia Downslanted palpebral fissures Kyphosis Midface retrusion Absent speech Brachycephaly Developmental regression Ataxia Motor delay Low-set ears Optic atrophy Hypoplasia of the corpus callosum Inspiratory stridor Overlapping fingers Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Edema of the lower limbs Beaking of vertebral bodies Increased mean corpuscular volume Thoracolumbar kyphosis Hypochromic anemia Recurrent upper respiratory tract infections 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 Anisopoikilocytosis Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Smooth philtrum Intervertebral space narrowing Heart murmur Increased intracranial pressure Prominent nasal bridge Spotty hypopigmentation Ichthyosis Anteverted nares Short neck Edema Proptosis Dyspnea Hypoplastic aortic arch Kyphoscoliosis Umbilical hernia Postnatal growth retardation Joint stiffness Tachycardia Ascites Otosclerosis Macroglossia Limitation of joint mobility Cyanosis Abnormality of the cardiovascular system Mitral valve prolapse Long neck Pulmonary arterial hypertension Mitral regurgitation Abnormality of the face Thickened skin Progressive hearing impairment Tachypnea Focal seizures, afebril Dysplastic aortic valve Narrow nose Syndactyly Posteriorly rotated ears Joint hyperflexibility Joint hypermobility Hypopigmentation of the skin Iris coloboma Short foot Sleep disturbance Vesicoureteral reflux Coarctation of aorta Broad thumb Schizophrenia Hand polydactyly High hypermetropia Wide intermamillary distance Single transverse palmar crease Transposition of the great arteries Foot polydactyly Truncus arteriosus Congestive heart failure Broad hallux phalanx Interrupted aortic arch Ankyloglossia Micrognathia Cleft palate Brachydactyly Ventricular septal defect Esotropia Narrow forehead Hypertonia Microphthalmia Epiphyseal stippling Localized skin lesion Abnormality of nasopharyngeal adenoids Long fingers Ectopic kidney Epicanthus Wide nose Intrauterine growth retardation Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Talipes equinovarus Long philtrum Overlapping toe Aortic valve stenosis Depressivity Patent ductus arteriosus Clinodactyly of the 5th finger Skeletal dysplasia Hydronephrosis 2-3 toe syndactyly Polyhydramnios Joint laxity Polydactyly Overfolded helix Sacral dimple Microretrognathia Wide nasal bridge Recurrent infections Hepatomegaly Weak cry Severe global developmental delay Lethargy Neutropenia Coma Chorea Aciduria Intellectual disability, profound Hypsarrhythmia Limb ataxia Leukopenia Poor suck Infantile spasms Restlessness Apnea Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Pill-rolling tremor Spasticity Cerebellar hypoplasia Dementia Irritability Abnormality of the nervous system Difficulty walking Everted lower lip vermilion Gait disturbance Macrotia Short philtrum Poor speech Abnormal cerebellum morphology Thickened calvaria Abnormality of the optic nerve Hypertelorism Ptosis Short nose Upslanted palpebral fissure Synophrys Thick eyebrow Highly arched eyebrow Neonatal hypotonia Cerebellar vermis hypoplasia Mild microcephaly Duplication of thumb phalanx Feeding difficulties Hypertension Vomiting Intellectual disability, mild Thrombocytopenia Encephalopathy Visual loss Hyporeflexia Myoclonus Acidosis Gait ataxia Protruding ear Depressed nasal bridge Stridor Dysphagia Cerebral atrophy Abnormality of metabolism/homeostasis Babinski sign Recurrent respiratory infections Neurological speech impairment Lower limb muscle weakness Unsteady gait Epileptic encephalopathy Spastic tetraplegia Intention tremor Spastic tetraparesis Laryngomalacia Neurodevelopmental delay Dysarthria Pendular nystagmus Proximal amyotrophy Tics Demyelinating peripheral neuropathy Subcortical cerebral atrophy Thenar muscle atrophy Angiokeratoma Angiokeratoma corporis diffusum Phonic tics Tortuosity of conjunctival vessels Aspartylglucosaminuria Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Tremor Peripheral neuropathy Wide mouth Polycystic ovaries Neurodegeneration Prominent nose Narrow face Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Atrial septal defect Malar flattening Obesity Hirsutism Overgrowth Arnold-Chiari malformation Slurred speech Cognitive impairment Large hands Polyphagia Long nose Syringomyelia Arnold-Chiari type I malformation High anterior hairline Long foot Menstrual irregularities Shyness Advanced ossification of carpal bones Progressive macrocephaly Nystagmus Muscle weakness Olivopontocerebellar hypoplasia


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