Hydrocephalus, and Splenomegaly

Diseases related with Hydrocephalus and Splenomegaly

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

Top matches:

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

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

Medium 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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Intellectual disability Pancytopenia Global developmental delay Spasticity Osteopetrosis Hypertonia Leukopenia Thrombocytopenia Frontal bossing Brachydactyly Feeding difficulties Nystagmus

Rare Symptoms - Less than 30% cases

Increased bone mineral density Optic atrophy Facial paralysis Abnormality of the skeletal system Vomiting Apnea Prominent forehead Facial palsy Respiratory distress Blindness Decreased antibody level in blood Hearing impairment Osteomyelitis Carious teeth Skeletal dysplasia Bone marrow hypocellularity Oculomotor apraxia Visual loss Respiratory insufficiency Ventriculomegaly Strabismus Communicating hydrocephalus Brachycephaly Failure to thrive Pallor Cataract Jaundice Microcephaly Ataxia Congestive heart failure Scoliosis Partial albinism Iris hypopigmentation Abnormality of lipid metabolism Pulmonary infiltrates Abnormal eyelash morphology Abnormal eyebrow morphology Edema of the lower limbs Abnormal aortic arch morphology White hair Generalized edema Hemophagocytosis Abnormality of neutrophils Accumulation of melanosomes in melanocytes Reduced delayed hypersensitivity Cutaneous anergy Cardiac valve calcification Micrognathia Abnormality of toe Silver-gray hair Melanin pigment aggregation in hair shafts Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Petechiae Albinism Premature graying of hair Muscular hypotonia Nausea and vomiting Lymphadenopathy Lethargy Neutropenia Rigidity Recurrent infections Immunodeficiency Edema Hypopigmentation of the skin Ascites Cognitive impairment Abnormal cerebellum morphology Fever Sepsis Cardiovascular calcification Abnormality of movement Aortic arch calcification Peripheral demyelination Hepatitis Progressive neurologic deterioration Encephalocele Abnormal common carotid artery morphology Hypometric horizontal saccades Recurrent bacterial infections Hyperlipidemia Cranial nerve paralysis Reduced tendon reflexes Hypopigmented skin patches Slowed horizontal saccades Pyloric stenosis Pain Hypodontia Abnormality of the dentition Abnormal pattern of respiration Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Low back pain Persistent open anterior fontanelle Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Abnormality of the vertebral column Osteolytic defects of the distal phalanges of the hand Abnormal pelvis bone ossification Prominent occiput Renal tubular acidosis Secondary hyperparathyroidism Progressive macrocephaly Extramedullary hematopoiesis Tetany Choanal stenosis Retinal atrophy Hyperparathyroidism Acidosis Pathologic fracture Flared metaphysis Ophthalmoparesis Elevated alkaline phosphatase Coxa vara Hypocalcemia Aganglionic megacolon Agenesis of permanent teeth Abnormality of dental morphology Kyphosis Narrow chest Hypoplasia of the maxilla Supranuclear ophthalmoplegia Postural instability Recurrent fractures Delayed eruption of teeth Short distal phalanx of finger Craniosynostosis Growth hormone deficiency Hyperlordosis High forehead Proptosis Osteoporosis Midface retrusion Malar flattening Prominent nose Abnormality of the skin Abnormality of the thorax Narrow palate Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Abnormality of the fingernails Wormian bones Blue sclerae Abnormality of the nail Short toe Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Abnormality of the face Small nail Spontaneous, recurrent epistaxis Mitral regurgitation Mitral valve calcification Subcutaneous lipoma Dolichocephaly Retinal detachment Hemangioma Polycystic ovaries Hyperostosis Open bite Irregular hyperpigmentation Exostoses Genu recurvatum Heterochromia iridis Lower limb asymmetry Abnormal pupil morphology Venous insufficiency Epibulbar dermoid Epidermal nevus Anteverted nares Tremor Elevated hepatic transaminase Pneumonia Encephalopathy Cerebral atrophy Dystonia Cerebellar atrophy Intrauterine growth retardation Shagreen patch Low-set ears Growth delay Generalized hypotonia Bronchogenic cyst Thymus hyperplasia Abnormality of the parathyroid gland Mandibular prognathia Downslanted palpebral fissures Severe global developmental delay Absent speech Delayed myelination Hemolytic anemia Inability to walk Paraplegia Spastic paraplegia Macrotia Hyperreflexia Hyperkalemia Abnormal hemoglobin Preeclampsia Pericarditis Hydrops fetalis Oligohydramnios Polyhydramnios Hyperbilirubinemia Broad neck Myopia Triangular face Increased density of long bones Uncontrolled eye movements Increased head circumference Short femoral neck Short chin Brain atrophy Irritability Conjugated hyperbilirubinemia Hypoplasia of the corpus callosum Gait disturbance Hypoglycorrhachia Zonular cataract Hemoglobinuria Stomatocytosis Paralysis Pruritus Corneal crystals Opacification of the corneal stroma Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Lateral clavicle hook Hyporeflexia Pes cavus Corneal opacity Generalized tonic-clonic seizures Ophthalmoplegia Dry skin Cardiomegaly Ventricular hypertrophy Decreased body weight Aortic valve stenosis Horizontal nystagmus Aortic regurgitation Nephronophthisis Abnormal mitral valve morphology Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Abnormal aortic morphology Abnormality of the pulmonary artery Abnormal aortic valve morphology Foam cells Cachexia Supranuclear gaze palsy Mitral stenosis Abnormal EKG Abnormal heart valve morphology Exertional dyspnea Heart murmur Bell-shaped thorax Visual field defect Convex nasal ridge CSF lymphocytic pleiocytosis Nyctalopia Cleft lip Polydactyly Obesity Renal insufficiency Ventricular septal defect Lymphocytosis Retinal degeneration Atrophy/Degeneration affecting the brainstem Muscle stiffness Bradycardia Leukodystrophy Progressive microcephaly Cerebral calcification Genu valgum Oral cleft Thoracic hypoplasia Rhizomelia Glucose intolerance Cone-shaped epiphysis Chronic kidney disease Short long bone Short ribs Hepatic fibrosis Short phalanx of finger Stage 5 chronic kidney disease Cholestasis Cerebellar vermis hypoplasia Postaxial hand polydactyly Retinal dystrophy Postaxial polydactyly Hepatic failure Sandwich appearance of vertebral bodies


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