Hydrocephalus, and Spina bifida

Diseases related with Hydrocephalus and Spina bifida

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

Top matches:

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Related symptoms:

  • Short stature
  • Hydrocephalus
  • Pectus excavatum
  • Talipes
  • Situs inversus totalis


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (OMIM ) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012).Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014).An X-linked form of spina bifida has been suggested; see {301410}. See also folate-sensitive neural tube defects (OMIM ), which are caused by genes involved in folate metabolism.

Related symptoms:

  • Hydrocephalus
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Cleft lip
  • Urinary incontinence


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD

Other less relevant matches:

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Spina bifida

Symptoms // Phenotype % cases
Microphthalmia Uncommon - Between 30% and 50% cases
Myelomeningocele Uncommon - Between 30% and 50% cases
Encephalocele Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Meningocele Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormality of cardiovascular system morphology Dandy-Walker malformation Occipital encephalocele Aplasia/Hypoplasia of the cerebellum Ataxia Nystagmus Anencephaly Global developmental delay Spasticity Cleft palate Seizures

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Intrauterine growth retardation Microcephaly Agenesis of corpus callosum Syringomyelia Arnold-Chiari malformation Strabismus Muscular hypotonia Malar flattening Micrognathia Polydactyly Postaxial polydactyly Renal cyst EEG abnormality Molar tooth sign on MRI Absence of the sacrum Neoplasm Cryptorchidism Inguinal hernia Coloboma Hypertension Ventriculomegaly Renal hypoplasia/aplasia Hypertelorism Intellectual disability, severe Neural tube defect Postaxial hand polydactyly Hernia Spina bifida occulta Abnormal heart morphology Hemivertebrae Abnormal vertebral morphology Abnormality of neuronal migration Holoprosencephaly Multiple lipomas Elevated serum creatine phosphokinase Midface retrusion Dilatation Anotia Aqueductal stenosis Femoral hernia Neonatal hypotonia Cerebellar hypoplasia Myoclonus Glaucoma Myopathy Pallor Neurological speech impairment Muscular dystrophy Severe global developmental delay Abnormality of the cerebral white matter Congenital cataract Abnormality of movement Retinal degeneration Hypertonia Visual impairment Gait disturbance Cerebellar vermis hypoplasia Pneumonia Posteriorly rotated ears High forehead Deeply set eye Abnormality of the eye Abnormality of the fallopian tube Irritability Short philtrum Prominent nasal bridge Abnormality of eye movement Highly arched eyebrow Open mouth Optic atrophy Tented upper lip vermilion Multiple renal cysts Breathing dysregulation Morning glory anomaly Muscle weakness Cataract Radial club hand Cognitive impairment Arrhinencephaly Everted lower lip vermilion Myopia Polymicrogyria Respiratory failure Generalized muscle weakness Type II lissencephaly Retinal atrophy Megalocornea Pulmonary hypoplasia Retinal dysplasia Hypoplasia of the pons Undetectable electroretinogram Buphthalmos Anal atresia Decreased light- and dark-adapted electroretinogram amplitude Cerebellar dysplasia Cerebellar cyst Cortical dysplasia Hypoglycosylation of alpha-dystroglycan Hip dislocation Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Abnormality of the kidney Retrognathia Polyhydramnios Enlarged flash visual evoked potentials Anemia Respiratory insufficiency Congenital glaucoma Microcornea High myopia Optic nerve hypoplasia Intellectual disability, profound Hypospadias EMG abnormality Abnormality of the optic nerve Opacification of the corneal stroma Severe muscular hypotonia Single umbilical artery Lissencephaly Esophageal atresia Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Abnormality of the vertebral column Renal agenesis Absent thumb Abnormality of the voice Congenital muscular dystrophy Tracheoesophageal fistula Anophthalmia Hypoplasia of the radius Abnormality of the outer ear Abnormal form of the vertebral bodies Hypoplasia of the brainstem Renal hypoplasia Hemiplegia/hemiparesis Pachygyria Cranial nerve paralysis Absent speech Heterotopia Abnormality of the thymus Craniorachischisis Asymmetry of spinal facet joints Feeding difficulties Dysphagia Headache Apnea Paralysis Limb muscle weakness Cyanosis Stridor Lipoma Opisthotonus Partial agenesis of the corpus callosum Weak cry Bulbar signs Inspiratory stridor Cervical myelopathy Occipital neuralgia Ventricular septal defect Atrial septal defect Bowing of the long bones Renal dysplasia Spinal dysraphism Hypocalcemia Bile duct proliferation Situs inversus totalis Talipes equinovarus Congenital diaphragmatic hernia Omphalocele Primary adrenal insufficiency Abnormal lung lobation Calvarial skull defect Abnormality of the diaphragm Short stature Pectus excavatum Talipes Dextrocardia Urinary incontinence Short thorax Restrictive ventilatory defect Missing ribs 11 pairs of ribs Neurogenic bladder Rib fusion Restrictive deficit on pulmonary function testing Block vertebrae Abnormality of the odontoid process Unilateral vertebral artery hypoplasia Cleft lip Agenesis of cerebellar vermis Meningoencephalocele Downslanted palpebral fissures Generalized hyperpigmentation Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Venous thrombosis Melanoma Increased intracranial pressure Encephalitis Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Arachnoid cyst Nevus Spinal cord compression Meningioma Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Growth delay Abnormal facial shape Ptosis Low-set ears Epicanthus Hemiparesis Mental deterioration Scoliosis Increased circulating cortisol level Abnormality of the dentition Intellectual disability, mild Carcinoma Facial asymmetry Overgrowth Bicuspid aortic valve Nephroblastoma Skeletal muscle hypertrophy Neurofibromas Impaired pain sensation Communicating hydrocephalus Abnormality of the nervous system Hemihypertrophy Pheochromocytoma Adrenocortical adenoma Asymmetric growth Asymmetry of the thorax Hepatoblastoma Embryonal neoplasm Leiomyosarcoma Hemifacial hypertrophy Hemiareflexia Behavioral abnormality Microtia, third degree


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