Hydrocephalus, and Spastic tetraplegia

Diseases related with Hydrocephalus and Spastic tetraplegia

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

Top matches:

High match SCHIZENCEPHALY

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCHIZENCEPHALY

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

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

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

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

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

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

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

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Spastic tetraplegia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Tetraplegia Flexion contracture Hearing impairment Motor delay Hyperreflexia Severe global developmental delay Short stature Abnormal facial shape Frontal bossing Macrotia Hypoplasia of the corpus callosum Tetraparesis Cerebral atrophy Spastic tetraparesis Growth delay Muscular hypotonia Holoprosencephaly Dilatation Agenesis of corpus callosum EEG abnormality Absent speech Hypertonia

Rare Symptoms - Less than 30% cases

Apnea Thick vermilion border Hyperactivity Spastic diplegia Hypertelorism Multiple joint contractures Feeding difficulties Short philtrum Profound global developmental delay Muscular hypotonia of the trunk Encephalopathy Skeletal muscle atrophy Talipes equinovarus Wide nasal bridge Intellectual disability, severe Brain atrophy Poor head control Myoclonus Babinski sign Coarse facial features Prominent nose Paraplegia Spastic paraplegia Epileptic encephalopathy Cerebellar hypoplasia Optic atrophy Macrocephaly Nystagmus Heterotopia Cataract Porencephalic cyst Hypoplasia of the brainstem Hemiplegia Cerebral cortical atrophy Sulfite oxidase deficiency Increased urinary thiosulfate Decreased urinary urate Thenar muscle atrophy Increased urinary hypoxanthine Neurodevelopmental delay Pendular nystagmus Proximal amyotrophy Subcortical cerebral atrophy Xanthinuria Communicating hydrocephalus Xanthine nephrolithiasis Demyelinating peripheral neuropathy Reduced xanthine dehydrogenase activity Increased urinary sulfite Decreased urinary sulfate Tics Absent urinary urothione Recurrent respiratory infections Aldehyde oxidase deficiency Dysarthria Angiokeratoma Abnormality of metabolism/homeostasis Recurrent infections Hepatosplenomegaly Dysphagia Aggressive behavior Tremor Attention deficit hyperactivity disorder Neurological speech impairment Generalized tonic-clonic seizures Lower limb muscle weakness Impulsivity Unsteady gait Peripheral neuropathy Delayed speech and language development Cognitive impairment Muscle weakness Ataxia Intention tremor Narrow palpebral fissure Laryngomalacia Stridor Brachycephaly Hypospadias Urinary glycosaminoglycan excretion Missing ribs Hypogonadotrophic hypogonadism Hemivertebrae Optic nerve hypoplasia Patent foramen ovale Chorioretinal coloboma Anophthalmia Tracheoesophageal fistula Vertebral fusion Increased number of teeth Esophageal atresia Sclerocornea 11 pairs of ribs Abnormality of the genital system Rib fusion Gonadotropin deficiency Periventricular leukomalacia Butterfly vertebrae Anterior pituitary hypoplasia Supernumerary ribs Vertebral hypoplasia Absent gallbladder Multiple impacted teeth Hypothalamic hamartoma Glandular hypospadias Cervical hemivertebrae Abnormal vertebral morphology Hypoplasia of penis Angiokeratoma corporis diffusum Visual loss Phonic tics Tortuosity of conjunctival vessels Aspartylglucosaminuria Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Sensorineural hearing impairment Cryptorchidism Low-set ears Ventricular septal defect Microphthalmia Midface retrusion Increased urinary taurine Patent ductus arteriosus Specific learning disability Abnormal heart morphology Posteriorly rotated ears Hypogonadism Micropenis Facial palsy Postnatal growth retardation Coloboma Congenital cataract Iris coloboma Single transverse palmar crease Delayed eruption of teeth Growth hormone deficiency Molybdenum cofactor deficiency Decreased activity of the pyruvate dehydrogenase complex Abnormal muscle tone Sclerotic vertebral endplates Kyphoscoliosis Cardiomegaly Intellectual disability, profound Atrial fibrillation Aortic valve stenosis Macroorchidism Abnormality of the thumb Atrial flutter Venous insufficiency Contractures of the large joints Proptosis Right hemiplegia Prominent nasal bridge Small for gestational age Generalized myoclonic seizures Sloping forehead Pachygyria Knee flexion contracture Intellectual disability, progressive Athetosis Generalized amyotrophy Self-mutilation Congestive heart failure Gray matter heterotopias Severe hydrocephalus Abnormality of the cerebral white matter Strabismus Blindness Paralysis Inability to walk Hemiparesis Aplasia/Hypoplasia of the corpus callosum Schizencephaly Gait disturbance Mental deterioration Muscular dystrophy Polymicrogyria Type II lissencephaly Neurodegeneration Coma Abnormal cerebellum morphology Progressive neurologic deterioration Encephalocele Absence seizures Lissencephaly Leukoencephalopathy Infantile spasms Occipital encephalocele Hydranencephaly High palate Hypouricemia Feeding difficulties in infancy Dandy-Walker malformation Cerebral calcification Hypotelorism Open mouth Long eyelashes Thick upper lip vermilion Fusion of the left and right thalami Short nose Long philtrum Deeply set eye Long face Anxiety Gliosis Full cheeks Peripheral demyelination Neuronal loss in central nervous system Progressive microcephaly Ectopia lentis Opisthotonus Axonal loss Lens luxation Myoclonic spasms Everted lower lip vermilion Nonketotic hyperglycinemia Neonatal hypotonia Failure to thrive Wide mouth Talipes Bulbous nose Highly arched eyebrow Focal-onset seizure Febrile seizures Cerebral palsy Facial hypotonia Loss of ability to walk Simple febrile seizures Respiratory insufficiency Hyperglycinemia Cardiomyopathy Edema Acidosis Hypertrophic cardiomyopathy Respiratory tract infection Lactic acidosis Sleep disturbance Increased serum lactate Leukodystrophy Poor suck Cerebral edema Proximal esophageal atresia


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