Hydrocephalus, and Osteosarcoma

Diseases related with Hydrocephalus and Osteosarcoma

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

Top matches:

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

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Other less relevant matches:

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.

PROTEUS-LIKE SYNDROME Is also known as cohen-hayden syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about PROTEUS-LIKE SYNDROME

Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Related symptoms:

  • Neoplasm
  • Hydrocephalus
  • Polyhydramnios
  • Melanoma
  • Growth abnormality


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Osteosarcoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Headache Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Astrocytoma Increased intracranial pressure Behavioral abnormality Hydronephrosis Subcutaneous nodule Nevus Vomiting Papule Hypertelorism Skin rash Cryptorchidism Neurofibromas Macrocephaly

Rare Symptoms - Less than 30% cases

Ventricular septal defect Downslanted palpebral fissures Myopia Chromosome breakage Glioblastoma multiforme Abnormality of cardiovascular system morphology Scoliosis Agenesis of corpus callosum Prominent forehead Leiomyosarcoma Abnormality of the kidney Broad forehead Facial asymmetry Polymicrogyria Short nose Epibulbar dermoid Narrow nasal bridge Ependymoma Hemihypertrophy Multiple lipomas Failure to thrive Skin tags Hamartoma Nephroblastoma Cerebral calcification Intellectual disability, mild Glioma Skeletal dysplasia Brain neoplasm Melanoma Shagreen patch Subcutaneous lipoma Lymphoma Communicating hydrocephalus Hemangioma Retinal detachment Sarcoma Epidermal nevus Macroglossia Respiratory failure Choroid plexus papilloma Choanal stenosis Atrial septal defect Papilloma Nausea Hearing impairment Glaucoma Nystagmus Abnormal facial shape Anemia Abnormality of skin pigmentation Abnormality of the skeletal system Cataract Proptosis Pain Cleft palate Strabismus Generalized hirsutism Open mouth Round face Postural instability Pruritus Full cheeks Broad nasal tip Everted lower lip vermilion Feeding difficulties Long philtrum Neoplasm of the skin Hypermelanotic macule Hypopigmented skin patches Spasticity Rigidity Cerebral cortical atrophy Cerebellar hypoplasia Alopecia Cerebral atrophy Microphthalmia Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Delayed speech and language development Global developmental delay Deep philtrum Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Cutaneous melanoma Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Melanocytic nevus Projection of scalp hair onto lateral cheek Rhabdomyoma Achromatic retinal patches Precocious puberty Generalized hypopigmentation Abnormality of the respiratory system Talipes equinovarus Hyperventilation Renal cell carcinoma Infantile spasms Recurrent infections Aortic aneurysm Polycystic kidney dysplasia White hair CNS hypomyelination Tachypnea Cafe-au-lait spot Hypoplasia of dental enamel Midface retrusion Heterotopia Cardiomegaly Generalized-onset seizure Renal neoplasm Wolff-Parkinson-White syndrome Subungual fibromas Hypomelanotic macule Scarring Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Subependymal nodules Pneumothorax Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Flank pain Adenoma sebaceum Fibroma Chylothorax Gingival fibromatosis Paralysis Tetraplegia Coloboma Neurodevelopmental abnormality Cranial nerve paralysis Nausea and vomiting Ataxia Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neoplasm of the skeletal system Ovarian neoplasm Pelvic kidney Chorioretinitis Hemiatrophy Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Hand polydactyly Acrokeratosis Visceral angiomatosis Increased circulating cortisol level Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Pheochromocytoma Myelomeningocele Impaired pain sensation Neoplasm of the thyroid gland Skeletal muscle hypertrophy Bicuspid aortic valve Overgrowth Inguinal hernia Hernia Abnormality of the dentition Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Abnormal aortic morphology Interrupted aortic arch Retinopathy Abnormality of the face Aphasia Lipodystrophy Hemiplegia Mutism Sacral dimple Osteolysis Muscle stiffness Aortic valve stenosis Hemiparesis Cortical dysplasia Pulmonary arterial hypertension Intellectual disability, profound Coarctation of aorta Dandy-Walker malformation Specific learning disability Iris coloboma Hypotrichosis Neurological speech impairment Corneal opacity Dysphasia Low-set ears Porencephalic cyst Eyelid coloboma Bone cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Craniofacial hyperostosis Xanthomatosis Echolalia Ectopia pupillae Dysostosis multiplex Abnormal eyelid morphology Absent septum pellucidum Sclerocornea Capillary hemangioma Abnormality of the skull Arachnoid cyst Abnormal eyelash morphology Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Depressivity Abnormality of the cerebral white matter Focal-onset seizure Abnormal cardiac septum morphology Underdeveloped nasal alae Prominent nose Vesicoureteral reflux Bifid uvula Anal atresia Malabsorption Choroid plexus carcinoma Prominent nasal bridge Craniosynostosis Pancytopenia Low-set, posteriorly rotated ears Conductive hearing impairment Narrow mouth Brachycephaly Microcephaly Abnormal heart morphology Thrombocytopenia Frontal bossing Hypotelorism Bowing of the long bones Intrauterine growth retardation Tracheoesophageal fistula Oligodactyly Short humerus Aplasia/Hypoplasia of the thumb Anteriorly placed anus Broad ribs Absent thumb Hallux valgus Hypoplasia of the ulna Trigonocephaly Renal dysplasia Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Narrow face Abnormal vertebral morphology Short thumb Large fontanelles Optic atrophy Visual impairment Fibular hypoplasia Buphthalmos Leukocoria Soft tissue sarcoma Visual loss Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Acute monocytic leukemia Malar flattening Anemia of inadequate production Weight loss Uveitis Acute myeloid leukemia Cellulitis Myelodysplasia Leukemia Anorexia Malar rash Fibrosarcoma Epicanthus Retinal calcification Motor delay High palate Micrognathia Growth delay Blindness Short stature Neuroblastic tumors Pineoblastoma Pinealoma Burkitt lymphoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Absent radius Aplasia/Hypoplasia of the radius Brain atrophy Abnormality of the parathyroid gland Micropenis Schwannoma High forehead Apnea Growth abnormality Polyhydramnios Bronchogenic cyst Thymus hyperplasia Delayed eruption of teeth Respiratory distress Hypertrichosis Sleep apnea Venous insufficiency Abnormal pupil morphology Lower limb asymmetry Loss of consciousness Heterochromia iridis Genu recurvatum Hypertension Congestive heart failure Irregular hyperpigmentation Attention deficit hyperactivity disorder Pneumonia Gliosis Chest pain Renal cyst Hypopigmentation of the skin Sleep disturbance Cough Stroke Autistic behavior Renal insufficiency Irritability Intellectual disability, moderate Dyspnea Hypothyroidism Autism Hyperactivity Arrhythmia Dilatation Exostoses Open bite Abnormality of the ureter Oxycephaly Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Anterior plagiocephaly Abnormal localization of kidney Abnormality of the carpal bones Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Coronal craniosynostosis Shallow orbits Carpal synostosis Metopic synostosis Urogenital fistula Hyperostosis Unilateral radial aplasia Polycystic ovaries Upper limb undergrowth Papilledema Dolichocephaly Broad neck Mandibular prognathia Splenomegaly Anteverted nares Aphalangy of the hands Flat forehead Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Hemiareflexia


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