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.
High match PAPILLOMA OF CHOROID PLEXUS; CPP
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 papillomaRelated symptoms:
- Intellectual disability
- Abnormal facial shape
More info about PAPILLOMA OF CHOROID PLEXUS; CPP
High match RETINOBLASTOMA; RB1
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 rbRelated symptoms:
- Intellectual disability
- Hearing impairment
More info about RETINOBLASTOMA; RB1
High match BALLER-GEROLD SYNDROME
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 defectsRelated symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
More info about BALLER-GEROLD SYNDROME
Other less relevant matches:
Low match PROTEUS-LIKE SYNDROME
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 syndromeRelated symptoms:
- Intellectual disability
- Downslanted palpebral fissures
More info about PROTEUS-LIKE SYNDROME
Low match GLIOMA SUSCEPTIBILITY 1; GLM1
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.
- Growth abnormality
More info about GLIOMA SUSCEPTIBILITY 1; GLM1
Low match TUBEROUS SCLEROSIS 1; TSC1
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).
TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tscRelated symptoms:
- Intellectual disability
More info about TUBEROUS SCLEROSIS 1; TSC1
Low match LARGE CONGENITAL MELANOCYTIC NEVUS
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|gmnRelated symptoms:
- Failure to thrive
More info about LARGE CONGENITAL MELANOCYTIC NEVUS
Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
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 syndromeRelated symptoms:
- Intellectual disability
- Global developmental delay
- Failure to thrive
More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Low match LHERMITTE-DUCLOS DISEASE
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|lddRelated symptoms:
More info about LHERMITTE-DUCLOS DISEASE
Low match ISOLATED HEMIHYPERPLASIA
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|hhpRelated symptoms:
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% casesAstrocytoma Increased intracranial pressure Behavioral abnormality Hydronephrosis Subcutaneous nodule Nevus Vomiting Papule Hypertelorism Skin rash Cryptorchidism Neurofibromas Macrocephaly
Rare Symptoms - Less than 30% casesVentricular 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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