Hydrocephalus, and Bone marrow hypocellularity

Diseases related with Hydrocephalus and Bone marrow hypocellularity

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Anemia
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR

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).Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Is also known as fa2|facb|fanconi pancytopenia, type 2

Related symptoms:

  • Growth delay
  • Neoplasm
  • Low-set ears
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

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

Other less relevant matches:

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

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

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Bone marrow hypocellularity

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Bone marrow hypocellularity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Osteopetrosis Seizures Optic atrophy Pancytopenia Increased bone mineral density Hypocalcemia Blindness Nystagmus Visual impairment Chromosome breakage Extramedullary hematopoiesis Hearing impairment Anal atresia Facial palsy Macrocephaly Osteomyelitis Facial paralysis Cranial hyperostosis Cranial nerve paralysis Carious teeth Microcephaly Global developmental delay Recurrent fractures Neoplasm Intrauterine growth retardation Failure to thrive Hepatomegaly Splenomegaly

Rare Symptoms - Less than 30% cases

Abnormality of the metaphysis Abnormality of epiphysis morphology Bone pain Hypertelorism Coxa vara Generalized osteosclerosis Edema Craniosynostosis Pathologic fracture Mandibular osteomyelitis Immunodeficiency Lymphadenopathy Abnormality of movement Abnormality of metabolism/homeostasis Proptosis Recurrent infections Intellectual disability Genu valgum Visual loss Ventriculomegaly Tracheoesophageal fistula Absent thumb Esophageal atresia Abnormality of chromosome stability Microphthalmia Renal hypoplasia Frontal bossing Cafe-au-lait spot Leukemia Decreased antibody level in blood Mandibular prognathia Abnormality of the dentition Sepsis Recurrent respiratory infections Bruising susceptibility Partial albinism Narrow chest Abnormality of neutrophils Reduced delayed hypersensitivity Pallor Apnea Cutaneous anergy Silver-gray hair Respiratory failure Melanin pigment aggregation in hair shafts Elevated alkaline phosphatase Tetany Secondary hyperparathyroidism Progressive macrocephaly Aganglionic megacolon Acidosis Choanal stenosis Ophthalmoparesis Retinal atrophy Flared metaphysis Accumulation of melanosomes in melanocytes Feeding difficulties Otitis media Sandwich appearance of vertebral bodies Tremor Hyperparathyroidism Renal tubular acidosis Delayed eruption of teeth Micrognathia Abnormal blistering of the skin Increased susceptibility to fractures Neurodegeneration Ectodermal dysplasia Osteoarthritis Recurrent urinary tract infections Lymphedema Joint dislocation Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Hyperostosis Paralysis Rhinitis Aseptic necrosis Abnormal cranial nerve morphology Fractures of the long bones Hip osteoarthritis Lumbar scoliosis Abnormal leukocyte morphology Elevated serum acid phosphatase Tooth abscess Short distal phalanx of finger Arthritis Abnormality of the ribs Abnormality of hair texture Pulmonary arterial hypertension Bowing of the long bones Reduced bone mineral density Hypophosphatemia Reticulocytosis Abnormality of visual evoked potentials Pulmonary artery stenosis Premature loss of primary teeth Chronic rhinitis Abnormality of temperature regulation Pneumonia Abnormal pulmonary valve morphology Optic nerve compression Opsoclonus Scoliosis Generalized edema Strabismus Muscle weakness Abnormality of the skeletal system Dilatation Hemophagocytosis Lethargy White hair Irritability Persistence of primary teeth Diaphyseal sclerosis Chronic rhinitis due to narrow nasal airway Generalized hypotonia Hypertonia Cerebral atrophy Muscular hypotonia of the trunk Abnormality of skin pigmentation Chromosomal breakage induced by crosslinking agents Hepatic failure Brain atrophy Arnold-Chiari malformation Severe vision loss Arnold-Chiari type I malformation Absence of renal corticomedullary differentiation Decreased osteoclast count Abnormal facial shape T-cell acute lymphoblastic leukemias Medulloblastoma Depressed nasal bridge Corneal opacity Low-set ears Renal agenesis Renal dysplasia Abnormal vertebral morphology External genital hypoplasia Absent radius Abnormal lung lobation Esotropia Peters anomaly Short thumb Horseshoe kidney Breast carcinoma Myelodysplasia Acute myeloid leukemia Anteriorly placed anus Lipoma Acute leukemia Cleft palate Wide nasal bridge Edema of the lower limbs Hypopigmented skin patches Hepatitis Progressive neurologic deterioration Encephalocele Recurrent bacterial infections Hyperlipidemia Leukopenia Reduced tendon reflexes Pyloric stenosis Abnormal cerebellum morphology Albinism Premature graying of hair Petechiae Iris hypopigmentation Abnormality of lipid metabolism Pulmonary infiltrates Abnormal eyelash morphology Abnormal eyebrow morphology Peripheral demyelination Ascites Short neck Hypoplastic sacrum Micropenis Hydronephrosis Microtia Full cheeks Hypoplasia of the radius Depressed nasal tip Rectovaginal fistula Forearm undergrowth Ataxia Hypopigmentation of the skin Muscular hypotonia Spasticity Fever Vomiting Jaundice Rigidity Nausea and vomiting Neutropenia Abnormality of the vertebral endplates


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