Hydrocephalus, and Sleep disturbance

Diseases related with Hydrocephalus and Sleep disturbance

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

Top matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

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

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Other less relevant matches:

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Low match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match ALG13-CDG

ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Sleep disturbance

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Apnea Microcephaly Sleep apnea Midface retrusion Intellectual disability, severe Abnormality of the skeletal system Low-set ears Muscular hypotonia Cognitive impairment Short stature Optic atrophy Recurrent infections Feeding difficulties Hypertelorism Headache Spasticity Ventriculomegaly Growth delay Kyphosis Flexion contracture

Rare Symptoms - Less than 30% cases

Micromelia Lumbar hyperlordosis Craniosynostosis Severe short stature Rhizomelia Hypoplasia of the corpus callosum Depressed nasal bridge Mesomelia Abnormality of the clavicle Hearing impairment Skeletal dysplasia Respiratory failure Neoplasm Increased intracranial pressure Abnormal facial shape Intrauterine growth retardation Scoliosis Hepatomegaly Abnormality of pelvic girdle bone morphology Wormian bones Proptosis Narrow chest Hyperlordosis Malar flattening Anteverted nares Brachydactyly Cryptorchidism Increased susceptibility to fractures Obesity Papilledema Confusion Delayed eruption of teeth Nausea Hydronephrosis High forehead Vomiting Vertigo Acanthosis nigricans Severe global developmental delay Polymicrogyria Hyperreflexia EEG abnormality Gastroesophageal reflux Cerebral atrophy Profound global developmental delay Depressivity Heterotopia Encephalopathy Nystagmus Agenesis of corpus callosum Anxiety Behavioral abnormality Dysarthria Macrogyria Abnormality of dental morphology Low back pain Small face Osteomyelitis Ridged nail Prominent occiput Osteopetrosis Spondylolisthesis Agenesis of permanent teeth Abnormality of the vertebral column Persistence of primary teeth Osteolytic defects of the phalanges of the hand Abnormal pattern of respiration Spondylolysis Delayed eruption of permanent teeth Developmental regression Hypsarrhythmia Abnormality of extrapyramidal motor function Epileptic encephalopathy Delayed myelination Abnormal bleeding Metatarsus valgus Small hand Severe hydrocephalus Abnormal pyramidal sign Coarse facial features Delayed eruption of primary teeth Autism Long philtrum Visual impairment Delayed speech and language development Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Snoring Absent frontal sinuses Abnormality of the thorax Increased bone mineral density Back pain Prominent forehead Postural instability Recurrent fractures Short distal phalanx of finger Carious teeth Hepatosplenomegaly Brachycephaly Osteoporosis Splenomegaly Hypoplasia of the maxilla Abnormality of the dentition Anemia Pain Micrognathia Acromelia Abnormality of the ilium Childhood onset short-limb short stature Narrow sacroiliac notch Hypodontia Prominent nose Osteolysis Abnormality of epiphysis morphology Abnormality of the fingernails Narrow palate Abnormality of the nail Decreased body weight Short toe Bone pain Abnormal vertebral morphology Abnormality of the face Thick cerebral cortex Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Small nail Blue sclerae Aplasia/Hypoplasia involving the skeletal musculature Abnormality of the skin Growth hormone deficiency Clumsiness Absent septum pellucidum Abnormality of the cerebellar vermis Microtia Iris coloboma Oral cleft Cleft upper lip Anal atresia Congenital cataract Abnormality of the cerebral white matter Muscular dystrophy Corneal opacity Retinopathy Retinal detachment Coloboma Submucous cleft hard palate Retinal atrophy Protruding ear Megalocornea Bilateral cleft lip Retinal dysplasia Abnormal cortical gyration Retinal dystrophy Microcornea Cleft lip Lissencephaly Occipital encephalocele Abnormality of neuronal migration Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Severe muscular hypotonia Bifid uvula Renal dysplasia Pachygyria Encephalocele Cerebellar vermis hypoplasia Intellectual disability, profound Hypoplasia of penis Specific learning disability Dandy-Walker malformation Abnormality of the optic nerve Glaucoma Cerebral visual impairment Adducted thumb Type II lissencephaly Cerebellar cyst Agyria Poor eye contact Infantile spasms Excessive daytime sleepiness Remnants of the hyaloid vascular system Global brain atrophy Posterior fossa cyst Muscle fiber splitting Meningoencephalocele Poor head control Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Microretrognathia Short chin Congenital glaucoma Horizontal nystagmus Cerebellar dysplasia Self-mutilation Posteriorly rotated ears Aqueductal stenosis Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Buphthalmos Dilatation Microphthalmia Long thorax Myopathy Type I transferrin isoform profile Blindness Skeletal muscle atrophy Myopia Peters anomaly Cataract Cleft palate Muscle weakness Abnormality of lateral ventricle Abnormality of brain morphology Aplasia/hypoplasia of the extremities Abnormality of the nasal bone Neonatal short-limb short stature Gingivitis Neural tube defect Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Delusions Glabellar reflex Irregular hyperpigmentation Insomnia Emotional lability Encephalitis Abnormality of vision Hypopigmented skin patches Aminoaciduria Hallucinations Hyperphenylalaninemia Grasp reflex Chronic diarrhea Wide anterior fontanel Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Tibial bowing Femoral bowing Thoracic hypoplasia Redundant skin Exotropia Neutral hyperaminoaciduria Pulmonary arterial hypertension Epidermal acanthosis High myopia Generalized-onset seizure Otitis media Brain atrophy Platyspondyly Congestive heart failure Diplopia Inflammatory abnormality of the skin Aplasia/Hypoplasia of the mandible Lactic acidosis Hyperglycinemia Cerebral edema Poor suck Spastic tetraparesis Leukodystrophy Tetraparesis Spastic tetraplegia Increased serum lactate Respiratory tract infection Nonketotic hyperglycinemia Hypertrophic cardiomyopathy Acidosis Myoclonus Edema Cardiomyopathy Respiratory insufficiency Motor delay Failure to thrive Decreased activity of the pyruvate dehydrogenase complex Ataxia Cutaneous photosensitivity Skin rash Psychosis Abnormal blistering of the skin Aciduria Migraine Hepatic steatosis Cirrhosis Unsteady gait Malabsorption Abnormality of the eye Strabismus Photophobia Gait ataxia Hypertonia Diarrhea Gait disturbance Tremor Fever Ptosis Fibular bowing Enlarged cerebellum Diaphyseal thickening Neoplasm of the anterior pituitary Joint hyperflexibility Neurological speech impairment Joint stiffness Conductive hearing impairment Hyperhidrosis Abnormality of the frontal bone Abnormal hypothalamus morphology Intracranial cystic lesion Sudden cardiac death Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Short palm Dental malocclusion Cerebral ischemia Elbow dislocation Large forehead Abnormality of the elbow Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Limited elbow extension Flared metaphysis Chronic otitis media Genu varum Limb undergrowth Short long bone Disproportionate short-limb short stature Clonus Dental crowding Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the ribs Central diabetes insipidus Pituitary hypothyroidism Talipes equinovarus Choanal stenosis Constipation Arrhythmia Fatigue Choroid plexus carcinoma Choroid plexus papilloma Papilloma Osteosarcoma Broad ribs Broad neck Hypothyroidism Upper limb undergrowth Loss of consciousness Hypertrichosis Macroglossia Carcinoma Micropenis Pneumonia Atrial septal defect Hypogonadism Hypoglycemia Excessive daytime somnolence Increased body weight Prolactin excess Proportionate short stature Hypopituitarism Orthostatic hypotension Polyphagia Impotence Diabetes insipidus Hypogonadotrophic hypogonadism Myocardial infarction Postnatal growth retardation Type II diabetes mellitus Cerebral calcification Amenorrhea Hypotension Coma Delayed puberty Nausea and vomiting Lethargy Abnormal aldolase level


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Increased serum lactate, related diseases and genetic alterations Motor delay and Syndactyly, related diseases and genetic alterations