Hydrocephalus, and Myelodysplasia

Diseases related with Hydrocephalus and Myelodysplasia

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

Top matches:

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Medium 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 rb

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Other less relevant matches:

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Myelodysplasia

Symptoms // Phenotype % cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Leukemia

Uncommon Symptoms - Between 30% and 50% cases

Short stature Global developmental delay Cleft palate Abnormal facial shape Ventriculomegaly Microphthalmia Cafe-au-lait spot Cataract Chromosome breakage Seizures Intellectual disability Cryptorchidism Micrognathia Hypertelorism Hypospadias Small for gestational age Anal atresia Nystagmus Hearing impairment Epicanthus Depressed nasal bridge Acute leukemia Abnormality of skin pigmentation Acute myeloid leukemia Absent thumb Bone marrow hypocellularity

Rare Symptoms - Less than 30% cases

Abnormality of cardiovascular system morphology Hyperpigmentation of the skin Recurrent urinary tract infections Hypergonadotropic hypogonadism Atrial septal defect Muscular dystrophy Hypothyroidism Abnormal heart morphology Clinodactyly of the 5th finger Patent ductus arteriosus Thrombocytopenia Abnormality of the skeletal system Scoliosis Ambiguous genitalia Abnormality of the eye Irritability Oligohydramnios Leukopenia Generalized hypotonia Frontal bossing Short nose Postnatal growth retardation Nephroblastoma High forehead Micropenis Upslanted palpebral fissure Acute lymphoblastic leukemia Clinodactyly Midface retrusion Wide nose Growth hormone deficiency Short neck Abnormality of the foot Wide nasal bridge Low-set ears Rhabdomyosarcoma Multiple cafe-au-lait spots Duodenal atresia Premature chromatid separation Hypoplasia of the radius Dolichocephaly Dandy-Walker malformation Abnormality of vision Reduced bone mineral density Lymphoma Carcinoma Proptosis Weight loss Glaucoma Abnormality of the upper limb Sarcoma Headache Malar flattening Visual impairment Pain Strabismus Acute monocytic leukemia Tracheoesophageal fistula Chromosomal breakage induced by crosslinking agents Short palpebral fissure Failure to thrive Corneal opacity Abnormality of chromosome stability Sloping forehead Renal hypoplasia Short thumb Abnormal aortic morphology Horseshoe kidney Absent radius Dementia Megakaryocyte dysplasia Babinski sign Cerebral atrophy Arteriovenous malformation Abnormal eyelid morphology Abnormality of the ulna External ear malformation Abnormality of radial ray Aplasia/Hypoplasia of the radius Spasticity Gait disturbance Irregular hyperpigmentation Behavioral abnormality Hypoplasia of the corpus callosum Hearing abnormality Edema Low-grade fever B-cell lymphoma Polysplenia Abnormality of nervous system morphology Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Compensated hypothyroidism Absent testis Reticulocytopenia Primary hypothyroidism Abnormal carotid artery morphology Hypoplastic anemia Duodenal stenosis Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Duplicated collecting system Meckel diverticulum Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle Abnormality of the periventricular white matter Aplastic anemia Arnold-Chiari malformation Aplasia/Hypoplasia of the iris Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Abnormality of the hypothalamus-pituitary axis Abnormality of the uterus Abnormality of the testis Deficient excision of UV-induced pyrimidine dimers in DNA Abnormality of the thumb Anemic pallor Bicornuate uterus Abnormality of femur morphology Complete duplication of thumb phalanx Cerebral calcification Myoclonus Deeply set eye Triangular face Ascites Bulbous nose Long face Blepharophimosis Craniosynostosis Apnea Low-set, posteriorly rotated ears Polyhydramnios Depressed nasal ridge Delayed skeletal maturation Intellectual disability, mild Ventricular septal defect Downslanted palpebral fissures Cognitive impairment Muscular hypotonia Hypoplastic sacrum Forearm undergrowth Coarctation of aorta Rhizomelia Depressed nasal tip Atrioventricular canal defect Epidermoid cyst Increased nuchal translucency Stomach cancer Subvalvular aortic stenosis Intestinal polyposis Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Colon cancer Multicystic kidney dysplasia Aplasia/Hypoplasia of the cerebellum Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Microretrognathia Osteolysis Finger clinodactyly Rectovaginal fistula Esophageal atresia Cerebral cortical atrophy Limitation of joint mobility Leukoencephalopathy Oculomotor apraxia Bone pain Abnormality of epiphysis morphology Apraxia Peripheral demyelination Memory impairment Urinary incontinence Chorea Personality changes Gliosis Abnormality of movement Neurological speech impairment Developmental regression Aggressive behavior EEG abnormality Arthralgia Skeletal dysplasia Abnormality of the hand Alzheimer disease Full cheeks Agnosia Microtia Hydronephrosis Euphoria Lack of insight Abnormal adipose tissue morphology Caudate atrophy Functional abnormality of the gastrointestinal tract Frontal lobe dementia Abnormal upper motor neuron morphology Pathologic fracture Inappropriate behavior Primitive reflex Bone cyst Disinhibition Cerebral edema Senile plaques Neurofibrillary tangles Axonal loss Basal ganglia calcification Abnormality of blood and blood-forming tissues Hypertrophic cardiomyopathy Myeloid leukemia Talipes equinovarus Decreased testicular size Sepsis Paraplegia Hypoglycemia Gastroesophageal reflux Diarrhea Motor delay Chronic diarrhea Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Decreased body weight Lymphopenia Neoplasm of the eye Shawl scrotum Esophageal stricture Microphallus Achalasia Overlapping fingers Aspiration pneumonia Adrenal hypoplasia Petechiae Meningitis Hyperkalemia Adrenal insufficiency Rocker bottom foot Hyponatremia Intracranial hemorrhage Abnormal intestine morphology Recurrent bacterial infections Hyphema Sebaceous gland carcinoma Hypoplastic spleen Vomiting Neurofibromas Increased intracranial pressure Anorexia Postural instability Skin rash Visual loss Blindness Uveitis T-cell acute lymphoblastic leukemias Medulloblastoma Peters anomaly Lipoma Anteriorly placed anus Breast carcinoma Esotropia Cellulitis Osteosarcoma Liposarcoma Soft tissue sarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Leiomyosarcoma Anemia of inadequate production Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Radial club hand Anteverted nares Hydroureter Vertigo Pancytopenia Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Neutropenia Bruising susceptibility Astigmatism Abnormality of the genital system Facial asymmetry Toe syndactyly Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Abnormality of the liver Abnormality of the kidney Choanal atresia Aganglionic megacolon Umbilical hernia Abnormality of the urinary system Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Triphalangeal thumb Hyperinsulinemia Hypopigmented skin patches Telangiectasia Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Type I diabetes mellitus Spina bifida Abnormal vertebral morphology Insulin resistance Pes planus Diabetes mellitus Long philtrum Renal cyst Bifid scrotum Limb-girdle muscular dystrophy Primary amenorrhea Intellectual disability, profound Amenorrhea Generalized myoclonic seizures Generalized tonic-clonic seizures Severe intrauterine growth retardation Severe global developmental delay Feeding difficulties in infancy Brachycephaly Posteriorly rotated ears Agenesis of corpus callosum Cerebellar hypoplasia Immunodeficiency Combined immunodeficiency Multiple renal cysts Hypogonadism Hepatomegaly Severe short stature Renal insufficiency Congestive heart failure Respiratory distress Fatigue Fever Hyperreflexia High palate Mild microcephaly Ptosis Ataxia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cerebral hypoplasia Triangular mouth Short sternum Vaginal neoplasm


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