Hydrocephalus, and Dystonia

Diseases related with Hydrocephalus and Dystonia

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

Top matches:

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Other less relevant matches:

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Low match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Dystonia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypertelorism Hypertonia Ventriculomegaly Short stature Anemia Cerebellar atrophy Feeding difficulties Optic atrophy Delayed speech and language development Nystagmus Vomiting Macrocephaly Growth delay Myopia Hernia Abnormality of the dentition Opisthotonus Talipes equinovarus Hematuria Failure to thrive Cerebellar hypoplasia Hepatomegaly Cognitive impairment Cataract Severe global developmental delay Low-set ears Hearing impairment Intrauterine growth retardation Midface retrusion Proteinuria Delayed skeletal maturation Ataxia Scoliosis Mandibular prognathia Prominent forehead Ptosis Splenomegaly Sensorineural hearing impairment Pancytopenia Hepatosplenomegaly Pneumonia Thrombocytopenia Cerebral atrophy Brachycephaly Microcephaly Torticollis Gastroesophageal reflux Frontal bossing Diarrhea Micrognathia Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Proptosis Aspiration pneumonia Hiatus hernia Esophagitis Visual impairment Conductive hearing impairment Craniosynostosis Downslanted palpebral fissures Delayed puberty Retrognathia Headache Absent speech Dental malocclusion Leukopenia Progressive microcephaly Hypoglycemia Respiratory tract infection Convex nasal ridge Muscular hypotonia Hip dislocation Encephalopathy Poor speech Narrow forehead Respiratory insufficiency Tremor Aspiration Thick eyebrow Microphthalmia Highly arched eyebrow Edema Progressive cerebellar ataxia Abnormality of eye movement Corneal opacity Pallor Mental deterioration Aggressive behavior Motor delay Osteopenia Progressive neurologic deterioration Recurrent respiratory infections Depressivity Kyphosis Gait disturbance Choanal atresia Flat occiput Hypoalbuminemia Clubbing Widely spaced teeth Low anterior hairline Abnormality of the sternum Aseptic necrosis Hypertrichosis Increased intracranial pressure Otitis media Narrow palate Ascites Amblyopia Neurodegeneration Delayed myelination Babinski sign Tetraparesis Limb dystonia Cleft palate Projectile vomiting Gliosis Behavioral abnormality Dysarthria Prominent nasal bridge Sleep disturbance Renal cyst Small for gestational age Abnormality of the foot Cryptorchidism Intellectual disability, severe Wide nasal bridge Short neck Abnormality of the skeletal system High palate Congenital diaphragmatic hernia Camptodactyly Pulmonary hypoplasia Epicanthus Muscular hypotonia of the trunk Hyperreflexia Pyloric stenosis Dilatation Ventricular septal defect Inguinal hernia Abnormal pyramidal sign Hypoplasia of the iris Macrotia Facial paralysis Chorea Femoral bowing Recurrent bacterial infections Open bite Chronic otitis media Prominent supraorbital ridges Bowing of the legs Heart murmur Bronchitis Bowel incontinence Neurodevelopmental delay Thickened calvaria Periorbital edema Hypoplasia of the ear cartilage Proportionate short stature Abnormality of the helix Abnormal echocardiogram Diffuse mesangial sclerosis Synovitis Abnormal cornea morphology Abnormality of the rib cage Axial dystonia Abnormality of the intervertebral disk Craniofacial hyperostosis Spondylolisthesis Reduced ejection fraction Severe sensorineural hearing impairment Hydrocele testis Dysostosis multiplex Congenital nephrotic syndrome Albuminuria Impaired smooth pursuit Encephalomalacia Delusions Laryngospasm Patellar dislocation Thyroid dysgenesis Type II diabetes mellitus Spastic gait Anxiety Malar flattening Hand clenching Immunodeficiency Abnormality of the cerebral white matter Recurrent infections Neurological speech impairment Broad forehead Pectus carinatum Areflexia Arthritis Intellectual disability, mild Umbilical hernia Diffuse cerebral atrophy Gait ataxia Kyphoscoliosis Aqueductal stenosis Skeletal dysplasia Coarse facial features Spastic ataxia Abnormal renal physiology Tubular atrophy Genu valgum Hallucinations Hip dysplasia Limb ataxia Diaphragmatic eventration Gingival overgrowth Tall stature Bowing of the long bones Depressed nasal ridge Psychosis Optic disc pallor Peripheral demyelination Muscle weakness Mild microcephaly Narrow nasal ridge Decreased antibody level in blood Macroglossia Pain Skeletal muscle atrophy Retinal degeneration Confusion Dysmetria Adrenal hypoplasia Myopathy Hypermetropia Narrow mouth Thoracolumbar kyphosis Abnormality of the urinary system Abnormality of digit Limited elbow extension Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Proximal placement of thumb Self-injurious behavior Short metatarsal Deep philtrum Incoordination Hypoplasia of the radius Dislocated radial head Relative macrocephaly Spontaneous abortion Elbow flexion contracture Increased body weight Long eyelashes Recurrent urinary tract infections Low posterior hairline Renal hypoplasia Blue sclerae High myopia Microdontia Webbed neck Vesicoureteral reflux Weak cry Hypoplastic nipples Triangular face Supernumerary ribs Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Phocomelia Oligodactyly Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Poor appetite Ectrodactyly Sepsis Microcornea Vacuolated lymphocytes Abnormality of joint mobility Atrial septal defect Cardiomyopathy Anteverted nares Fever Hypertension Neoplasm Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of the ilium Syndactyly Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Long philtrum Hypospadias Delayed eruption of teeth Synophrys Tapered finger Single transverse palmar crease Small hand High, narrow palate Downturned corners of mouth Hirsutism Thin vermilion border Cleft upper lip Vertigo Astigmatism Micromelia Toe syndactyly Pulmonic stenosis Autistic behavior Clinodactyly Postnatal growth retardation Abnormality of the pinna Telecanthus Hypertrophic cardiomyopathy Thin upper lip vermilion Autism Congenital hypothyroidism Glaucoma Hyperactivity Hyperhidrosis Severe short stature Clinodactyly of the 5th finger Abnormal heart morphology Abnormality of immune system physiology Decreased beta-glucocerebrosidase protein and activity Slender finger Cleft lip Atresia of the external auditory canal Arnold-Chiari malformation Hypopigmented skin patches Sleep apnea Acanthosis nigricans Conjunctivitis Dental crowding Primary amenorrhea Amenorrhea Hypoplasia of the maxilla Iris coloboma High forehead Melanocytic nevus Respiratory distress CSF lymphocytic pleiocytosis Lymphocytosis Atrophy/Degeneration affecting the brainstem Muscle stiffness Bradycardia Leukodystrophy Cerebral calcification Pruritus Paralysis Apnea Trigonocephaly Keratitis Antenatal intracerebral hemorrhage Abnormality of the cervical spine Arrhythmia Congestive heart failure Dysphagia Fatigue Cartilaginous trachea Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormal sacrum morphology Abnormality of the nasopharynx Short upper lip Craniofacial dysostosis Gonadal dysgenesis Lambdoidal craniosynostosis Sagittal craniosynostosis Cloverleaf skull Gonadoblastoma Choanal stenosis Coronal craniosynostosis Abnormality of the skull Turricephaly Papilledema Shallow orbits Scaphocephaly Syringomyelia Elevated hepatic transaminase Spastic hemiparesis Myoclonus Tented upper lip vermilion Bicornuate uterus Anophthalmia Spastic tetraparesis Short chin Short palpebral fissure Broad nasal tip Wide nose Sparse hair Increased head circumference Congenital muscular torticollis Facial hypotonia Congenital hip dislocation Elevated serum creatine phosphokinase Chronic diarrhea Open mouth Overgrowth Deeply set eye Methylmalonic acidemia Methylmalonic aciduria Ketonuria Tachypnea Dehydration Aciduria Metabolic acidosis Acidosis Hypoplastic left atrium Stroke Perivascular spaces Cortical dysplasia Schizencephaly Pontocerebellar atrophy Hemianopia Primitive reflex Porencephalic cyst Stroke-like episode Nuclear cataract Transient ischemic attack Posterior embryotoxon Restlessness Visual field defect Dysphasia Polymicrogyria Cerebral hemorrhage Intracranial hemorrhage Hemiplegia Ischemic stroke Drooling Cerebral palsy Leukoencephalopathy Exotropia Hemiparesis Mitral valve prolapse Muscle cramps Hemolytic anemia Dementia Osteoporosis Abnormality of neuronal migration Cerebral cortical atrophy Inability to walk Arachnodactyly Talipes Camptodactyly of finger Retinopathy Wide mouth Irritability Abnormality of the eye Abnormality of the kidney EEG abnormality Hypothyroidism Pes cavus Hypopigmentation of the skin Renal insufficiency Hypoplasia of the corpus callosum Flexion contracture Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Erlenmeyer flask deformity of the femurs Orthopnea Nephropathy Tetraplegia Abnormal saccadic eye movements Postnatal microcephaly Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Hypoplasia of the brainstem Glomerulosclerosis Chronic kidney disease Adducted thumb Hyperkinesis Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma Joint contracture of the hand Heterotopia Brain atrophy Pachygyria Small nail Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Hypotelorism Oligohydramnios Sloping forehead Dandy-Walker malformation Prominent nose Premature birth Limitation of joint mobility Mitral valve calcification Aortic valve calcification Abdominal pain Pulmonary arterial hypertension Cholelithiasis Increased susceptibility to fractures Oculomotor apraxia Osteolysis Increased bone mineral density Lymphopenia Bone pain Hydrops fetalis Decreased body weight Intention tremor Epistaxis Cyanosis Abnormality of the thorax Syncope Abnormal bleeding Generalized myoclonic seizures Abdominal distention Cirrhosis Lymphadenopathy Malabsorption Ophthalmoplegia Generalized tonic-clonic seizures Rigidity Difficulty walking Dyspnea Portal hypertension Menorrhagia Spontaneous hematomas Vertebral compression fractures Abnormal thrombosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Hypercoagulability Slow saccadic eye movements Pulmonary fibrosis Thoracic kyphosis Hepatocellular carcinoma Abnormal heart valve morphology Exertional dyspnea Bulbar palsy Lower limb hyperreflexia Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Increased antibody level in blood Dysplastic tricuspid valve


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