Hydrocephalus, and Leukodystrophy

Diseases related with Hydrocephalus and Leukodystrophy

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


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

Medium match LIPOIC ACID SYNTHETASE DEFICIENCY


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

Medium match AICARDI-GOUTIERES SYNDROME 4; AGS4


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

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Other less relevant matches:

Medium match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Medium match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match MULTIPLE SULFATASE DEFICIENCY


Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Medium match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Low match PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Top 5 symptoms//phenotypes associated to Hydrocephalus and Leukodystrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cerebral atrophy

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Peripheral demyelination Failure to thrive Growth delay Short stature Intellectual disability Hearing impairment Ventriculomegaly Cataract Sensorineural hearing impairment Macrocephaly Nystagmus Flexion contracture Ataxia CNS demyelination Hepatomegaly Tremor Muscle weakness Cerebral calcification Optic atrophy Abnormality of the cerebral white matter Muscular hypotonia Respiratory insufficiency Developmental regression Severe global developmental delay Agenesis of corpus callosum Increased CSF protein Neonatal hypotonia Hyperreflexia Scoliosis Intrauterine growth retardation Splenomegaly Gait disturbance Microphthalmia

Rare Symptoms - Less than 30% cases


Reduced visual acuity Visual impairment Mental deterioration EEG abnormality Recurrent respiratory infections Weight loss Patent ductus arteriosus Strabismus Behavioral abnormality Hypogonadism Cryptorchidism Vomiting Neurodegeneration Skin rash Broad hallux phalanx High palate Dysmetria Neurological speech impairment Osteopenia Hypothyroidism Dementia Constipation Kyphosis Short neck Dysphagia Frontal bossing Dysarthria Hypertension Ptosis Clonus Abnormal facial shape Depressed nasal bridge Anteverted nares Prominent forehead Muscle stiffness Double outlet right ventricle Smooth philtrum Progressive spasticity Retinal degeneration Coloboma Decreased nerve conduction velocity CNS hypomyelination Atrophy/Degeneration affecting the brainstem Cognitive impairment Agyria Muscular dystrophy Spastic tetraparesis Dilatation Elevated serum creatine phosphokinase Wide nasal bridge Glaucoma Sleep disturbance Respiratory failure Corneal opacity Epicanthus Atrial septal defect High myopia Cerebellar vermis hypoplasia Apnea Lissencephaly Holoprosencephaly Poor head control Encephalopathy Congenital muscular dystrophy Motor delay Intellectual disability, severe Tetraparesis Hepatosplenomegaly Progressive microcephaly Elevated hepatic transaminase Thrombocytopenia Pancytopenia Myopia Hypertonia Low-set ears Cerebellar atrophy Narrow chest Increased cellular sensitivity to UV light Growth hormone deficiency Microcornea Toe syndactyly Severe photosensitivity Dolichocephaly Microdontia Dehydration Hip dislocation Eczema Slender nose Otitis media Decreased antibody level in blood Normal pressure hydrocephalus Small for gestational age Iris coloboma Bruising susceptibility Chorioretinitis Decreased lacrimation Tachycardia Postural instability Anal atresia Webbed neck Loss of facial adipose tissue Premature birth Talipes Facial asymmetry Intestinal malrotation Single transverse palmar crease Abnormality of cardiovascular system morphology Attention deficit hyperactivity disorder Square pelvis bone Congestive heart failure Osteoporosis Clinodactyly of the 5th finger Downslanted palpebral fissures Ventricular septal defect Talipes equinovarus Inguinal hernia Abnormal heart morphology Abnormality of the dentition Intellectual disability, mild Retrognathia Short nose Clinodactyly Long philtrum Abnormal form of the vertebral bodies Syndactyly Immunodeficiency Recurrent infections Pectus excavatum Hypospadias High forehead Pes planus Leukemia Craniosynostosis Peripheral dysmyelination Ivory epiphyses of the phalanges of the hand Finger syndactyly Patchy demyelination of subcortical white matter Hernia Abnormal cardiac septum morphology Thymic hormone decreased Hypertelorism Postnatal growth retardation Thin upper lip vermilion Feeding difficulties in infancy Micrognathia Camptodactyly Low-set, posteriorly rotated ears Intellectual disability, moderate Telecanthus Hydronephrosis Brachydactyly Hypoglycemia Coarctation of aorta Abnormal eyelash morphology Pachygyria Congenital thrombocytopenia Arnold-Chiari malformation Respiratory insufficiency due to muscle weakness Encephalocele Bilateral sensorineural hearing impairment Poor speech Polyhydramnios Cerebellar hypoplasia Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Bilateral camptodactyly Occipital encephalocele Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism Hypoplasia of the brainstem Hypoventilation Urethral stenosis Cholelithiasis Abnormality of the hairline Elevated long chain fatty acids Cranial asymmetry Periorbital fullness Delayed closure of the anterior fontanelle Abnormal cortical bone morphology Renal tubular dysfunction Scaphocephaly Central hypotonia Hyperbilirubinemia Abnormally large globe Wide anterior fontanel Decreased body weight Decreased fetal movement Prominent nose Sepsis Triangular face Hepatic failure Cortical cataract Type II lissencephaly Retinal coloboma U-Shaped upper lip vermilion Long hallux Amblyopia Tachypnea Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Abnormal palate morphology Aplasia/Hypoplasia of the eyebrow Azoospermia Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Short toe Sinusitis Short thumb Flat occiput Hypoplastic left heart Abnormality of the head Eyelid coloboma Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Mitral stenosis Ectopic anus Duodenal atresia Chronic constipation Atrioventricular canal defect Retinal dysplasia Diastasis recti Missing ribs Delayed eruption of primary teeth Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Retinal pigment epithelial mottling Broad hallux Abnormal auditory evoked potentials Spastic paraparesis Episodic fever Hyperactive deep tendon reflexes Ankle clonus Opisthotonus Global brain atrophy Hemiplegia/hemiparesis Postural tremor Hemiplegia Paraparesis Diffuse cerebral atrophy EMG abnormality Horizontal nystagmus Sensorimotor neuropathy Progressive muscle weakness Frequent falls Optic disc pallor Brain atrophy Generalized myoclonic seizures Sensory neuropathy Autoimmune thrombocytopenia Motor deterioration Protruding ear Diabetes mellitus Sudden cardiac death Tetraplegia Abnormality of eye movement Nausea and vomiting Cough Abnormal pyramidal sign Hyperlordosis Facial palsy Hyperhidrosis Abnormality of the thumb Hyporeflexia Depressivity Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity Abnormal nerve conduction velocity Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Falls Pallor Chorea Myoclonus Profound global developmental delay Poor suck Spastic tetraplegia Increased serum lactate Lactic acidosis Respiratory tract infection Hypertrophic cardiomyopathy Acidosis Edema Hyperglycinemia Cardiomyopathy Cerebellar cyst Buphthalmos Intellectual disability, profound Retinal dystrophy Polymicrogyria Absent speech Myopathy Hypoplasia of the corpus callosum Cerebral edema Decreased activity of the pyruvate dehydrogenase complex Irritability CSF lymphocytic pleiocytosis Muscular hypotonia of the trunk Rigidity Pes cavus Visual loss Abnormality of metabolism/homeostasis Blindness Fever Peripheral neuropathy Lymphocytosis Nonketotic hyperglycinemia Facial paralysis Leukopenia Bradycardia Convex nasal ridge Pruritus Paralysis Pneumonia Dystonia Anemia Gliosis Hypotension Hypoplasia of teeth Mandibular prognathia Abnormality of skin pigmentation Dry skin Carious teeth Hypermetropia Retinopathy Sparse hair Abnormality of the pinna Proteinuria Micropenis Limitation of joint mobility Severe short stature Arrhythmia Renal insufficiency Neoplasm Rapid neurologic deterioration Urinary glycosaminoglycan excretion Retrocerebellar cyst Hypoplastic vertebral bodies Mucopolysacchariduria Polyneuropathy Dental malocclusion Periorbital edema Basal ganglia calcification Menstrual irregularities Dry hair Hypoplastic pelvis Hypoplastic iliac wing Progeroid facial appearance Atypical scarring of skin Severe postnatal growth retardation Abnormality of visual evoked potentials Thickened calvaria Pigmentary retinopathy Reduced subcutaneous adipose tissue Anhidrosis Large hands Neoplasm of the skin Atherosclerosis Opacification of the corneal stroma Knee flexion contracture Anorexia Cutaneous photosensitivity Abnormality of peripheral nerve conduction Olivopontocerebellar atrophy Amenorrhea Dysphasia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Drowsiness Muscle fibrillation Bowel incontinence Emotional lability Large face Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Sleep apnea Leukoencephalopathy Abnormal autonomic nervous system physiology Diplopia Hypersomnia Pseudobulbar signs Developmental stagnation Thick eyebrow Large forehead Dysostosis multiplex Abnormality of the periventricular white matter Lower limb hyperreflexia Coarse hair Abnormality of retinal pigmentation Broad thumb Progressive neurologic deterioration Flat face Progressive macrocephaly Ichthyosis Joint stiffness Coarse facial features Abnormality of the skeletal system Delayed speech and language development Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Abnormality of the male genitalia



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