Hydrocephalus, and Pallor

Diseases related with Hydrocephalus and Pallor

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

Top matches:

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC Is also known as methylmalonic aciduria with homocystinuria, type cblc|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc|cobalamin c defect|cblc defect

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Fatigue
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Other less relevant matches:

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

High match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

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

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

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

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Pallor

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Intellectual disability Hypertonia Hepatomegaly Anemia Microcephaly Optic atrophy Visual impairment Pancytopenia Scoliosis Congestive heart failure Generalized hypotonia Growth delay Splenomegaly Vomiting Hepatosplenomegaly High palate Intrauterine growth retardation Ptosis Abnormality of the skeletal system Opisthotonus Atrial septal defect Cryptorchidism Hypospadias Cleft palate Abnormal heart morphology Thrombocytopenia Otitis media Recurrent respiratory infections Micrognathia Hip dislocation Small for gestational age Tremor Cataract Fever Abnormality of the urinary system Spasticity Cognitive impairment Myopia Ataxia Fatigue Gait disturbance Ventriculomegaly

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Sepsis Bruising susceptibility Behavioral abnormality Bone pain Pulmonary arterial hypertension Decreased beta-glucocerebrosidase protein and activity Increased bone mineral density Bone marrow hypocellularity Cranial nerve paralysis Reduced bone mineral density Abnormality of hair texture Mitral valve calcification Macrocephaly Cardiac valve calcification Lymphadenopathy Craniosynostosis Sensorineural hearing impairment Feeding difficulties Abnormality of metabolism/homeostasis Hyperreflexia Abnormality of the thumb Generalized myoclonic seizures Neurodegeneration Protruding ear Irritability Mental deterioration Rigidity Weight loss Kyphosis Clinodactyly of the 5th finger Depressivity Conductive hearing impairment Abnormality of cardiovascular system morphology Abnormal facial shape Neoplasm Upslanted palpebral fissure Hyperactivity Hypothyroidism Hypertelorism Pes planus Abnormal cardiac septum morphology Abnormality of the dentition Prominent nasal bridge Pulmonic stenosis Abnormality of the foot Cleft upper lip High, narrow palate Small hand Vesicoureteral reflux Abnormality of the genital system Pyloric stenosis Long philtrum Ventricular septal defect Delayed skeletal maturation Astigmatism Ectopic kidney Proteinuria Aggressive behavior Leukopenia Recurrent urinary tract infections Clubbing Choanal atresia Abnormality of the sternum Vertigo Toe syndactyly Epicanthus Postnatal growth retardation Hypertrophic cardiomyopathy Proptosis Severe short stature Aortic valve calcification Headache Low-set ears Delayed speech and language development Hypertension Abnormal saccadic eye movements Widely spaced teeth Abnormal aortic morphology Generalized tonic-clonic seizures Decreased body weight Muscle weakness Muscular hypotonia Hypoplasia of the corpus callosum Dry skin Ophthalmoplegia Intellectual disability, severe Microphthalmia Dilatation Myoclonus Glaucoma EEG abnormality Oculomotor apraxia Corneal opacity Abnormality of movement Everted lower lip vermilion High myopia Brachycephaly Pes cavus EMG abnormality Respiratory distress Opacification of the corneal stroma Cortical dysplasia Hemiplegia/hemiparesis Horizontal nystagmus Abnormality of the cerebral white matter Supranuclear gaze palsy Abnormal aortic valve morphology Exertional dyspnea Abnormal heart valve morphology Hydrops fetalis Oligohydramnios Anteverted ears Dolichocephaly Neutropenia Abnormality of skin pigmentation Ectrodactyly Poor appetite Hiatus hernia Anal atresia Facial asymmetry Aspiration pneumonia Abnormality of the liver Finger syndactyly Leukemia Lymphoma Esophagitis Abnormality of the kidney Abnormality of the eye Hypoplastic labia majora Carcinoma Umbilical hernia Hypoplastic radial head Diabetes mellitus Hypogonadism Hypopigmentation of the skin Short palpebral fissure Renal agenesis Spina bifida Myelodysplasia Laryngomalacia Hyperinsulinemia Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Azoospermia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Abnormal vertebral morphology Tetralogy of Fallot Insulin resistance Weak cry Short thumb Cafe-au-lait spot Telangiectasia Dislocated radial head Aganglionic megacolon Hypoplastic nipples Oligodactyly Abnormality of the umbilicus Sloping forehead Nasal speech Patent ductus arteriosus Abnormality of the gastrointestinal tract Slender finger Otitis media with effusion Malrotation of colon Esophageal stenosis Hypotrophy of the small hand muscles Hypertropia Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Prominent metopic ridge Curly eyelashes Narrow palm Multifocal epileptiform discharges Expressive language delay Spondylolisthesis Prominent fingertip pads Left-to-right shunt Chronic infection Glioma Projectile vomiting Abnormality of the head Hypoplastic male external genitalia Absent hand Optic nerve coloboma Sparse eyebrow Duplication of internal organs Thick upper lip vermilion Reduced renal corticomedullary differentiation Failure to thrive in infancy Renal insufficiency Aortic aneurysm Recurrent hypoglycemia Elbow dislocation Volvulus Panhypopituitarism Frontal bossing Gastroparesis Overfolded helix Peters anomaly Tracheoesophageal fistula Short sternum Perimembranous ventricular septal defect Hand oligodactyly Phocomelia Supernumerary ribs Impulsivity Long fingers Vertebral fusion Triphalangeal thumb Myeloid leukemia Glucose intolerance Anteverted nares Aspiration Autism Narrow mouth Hyperhidrosis Prominent forehead Pneumonia Inguinal hernia Clinodactyly Hernia Syndactyly Cardiomyopathy Short neck Talipes equinovarus Mandibular prognathia Wide nasal bridge Depressed nasal bridge Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Abnormality of the genitourinary system Abnormal carotid artery morphology Almond-shaped palpebral fissure Long eyelashes Hypertrichosis Absent testis Autistic behavior Sleep disturbance Single transverse palmar crease Microcornea Highly arched eyebrow Downturned corners of mouth Hirsutism Pulmonary hypoplasia Thick eyebrow Thin vermilion border Renal cyst Micromelia Synophrys Respiratory tract infection Gastroesophageal reflux Abnormality of the pinna Camptodactyly Triangular face Webbed neck Microdontia Telecanthus Congenital diaphragmatic hernia Hypoglycemia Blue sclerae Renal hypoplasia Thin upper lip vermilion Low posterior hairline Retrognathia Compensated hypothyroidism Hypoplastic anemia Hypoplasia of the ulna Irregular hyperpigmentation Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Proximal placement of thumb Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Tricuspid regurgitation Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Bicornuate uterus Cutis marmorata Short middle phalanx of finger 2-3 toe syndactyly Absent radius Abnormality of blood and blood-forming tissues Limited elbow extension Acute myeloid leukemia Multiple cafe-au-lait spots Tapered finger Absent thumb Hydroureter Abnormality of digit Squamous cell carcinoma Abnormality of the testis Abnormality of femur morphology Chromosomal breakage induced by crosslinking agents Elbow flexion contracture Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Low anterior hairline Primary hypothyroidism Increased body weight Abnormality of nervous system morphology Self-injurious behavior Spontaneous abortion Torticollis Reticulocytopenia Abnormality of chromosome stability Relative macrocephaly Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Hypoplasia of the radius Incoordination Deep philtrum Acute monocytic leukemia Short metatarsal Prolonged G2 phase of cell cycle Hematological neoplasm Bicuspid aortic valve Abnormality of toe Falls Developmental regression Muscular hypotonia of the trunk Reduced visual acuity Visual loss Blindness Peripheral neuropathy Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Bacterial endocarditis Brain atrophy Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Corneal crystals Reticular hyperpigmentation Abnormality of the pulmonary artery Abnormal mitral valve morphology Foam cells Communicating hydrocephalus Mitral stenosis Sensory neuropathy Peripheral demyelination Heart murmur Progressive spasticity Abnormal nerve conduction velocity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Motor deterioration Diffuse cerebral atrophy Increased CSF protein Autoimmune thrombocytopenia Episodic fever Hyperactive deep tendon reflexes Ankle clonus Global brain atrophy Optic disc pallor Postural tremor Hemiplegia Decreased nerve conduction velocity CNS hypomyelination Spastic tetraparesis Spastic paraparesis Paraparesis Sensorimotor neuropathy Leukodystrophy Clonus Progressive muscle weakness Frequent falls Tetraparesis Abnormal EKG Cachexia Unexplained fevers Neonatal hypotonia Severe muscular hypotonia Pachygyria Encephalocele Intellectual disability, profound Generalized muscle weakness Polymicrogyria Retinal degeneration Congenital cataract Severe global developmental delay Muscular dystrophy Neurological speech impairment Coloboma Agenesis of corpus callosum Lissencephaly Cerebellar hypoplasia Elevated serum creatine phosphokinase Midface retrusion Malar flattening Myopathy Abnormal hemoglobin Preeclampsia Pericarditis Polyhydramnios Megaloblastic bone marrow Anorexia Lethargy Retinopathy Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Cerebellar dysplasia Aortic valve stenosis Mitral regurgitation Ventricular hypertrophy Cardiomegaly Hyporeflexia Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Type II lissencephaly Decreased light- and dark-adapted electroretinogram amplitude Infantile muscular hypotonia Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Retinal dysplasia Meningocele Megalocornea Retinal atrophy Congenital glaucoma Hypoplasia of the brainstem Aplasia/Hypoplasia of the cerebellum Congenital muscular dystrophy Abnormality of the voice Optic nerve hypoplasia Decerebrate rigidity Abnormal flash visual evoked potentials Sacral dimple Protein-losing enteropathy Absent speech Motor delay Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Horizontal supranuclear gaze palsy Erlenmeyer flask deformity of the femurs Orthopnea Spontaneous hematomas Abnormal thrombosis Generalized osteosclerosis Astrocytosis Restrictive deficit on pulmonary function testing High forehead Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Hepatocellular carcinoma Aseptic necrosis Bulbar palsy Lower limb hyperreflexia Abnormal retinal morphology Pectus excavatum Macrotia Interstitial pulmonary abnormality Bulbous nose Narrow palpebral fissure Joint dislocation Narrow palate Heterotopia Open mouth Status epilepticus Hypotelorism Eczema Hip dysplasia Wide intermamillary distance Focal-onset seizure Underdeveloped nasal alae Joint hypermobility Hydronephrosis Long face Oral cleft Arachnodactyly Poor speech Hypermetropia Broad forehead Scarring Blepharophimosis Feeding difficulties in infancy Intellectual disability, moderate Cleft lip Joint laxity Anxiety Pericardial effusion Restrictive ventilatory defect Respiratory failure Osteopetrosis Arrhythmia Encephalopathy Dystonia Diarrhea Edema Dysphagia Opsoclonus Optic nerve compression Abnormal pulmonary valve morphology Abnormality of temperature regulation Chronic rhinitis Premature loss of primary teeth Pulmonary artery stenosis Osteoporosis Abnormality of visual evoked potentials Reticulocytosis Hypophosphatemia Hypocalcemia Abnormality of epiphysis morphology Bowing of the long bones Abnormality of the metaphysis Abnormality of the ribs Abnormal blistering of the skin Recurrent fractures Narrow chest Apnea Facial palsy Dementia Abdominal pain Petechiae Epistaxis Increased antibody level in blood Pulmonary fibrosis Menorrhagia Abnormality of the thorax Portal hypertension Cholelithiasis Hypoalbuminemia Increased susceptibility to fractures Osteolysis Lymphopenia Progressive neurologic deterioration Intention tremor Cyanosis Dyspnea Syncope Abnormal bleeding Progressive cerebellar ataxia Abdominal distention Ascites Hematuria Cirrhosis Abnormality of eye movement Delayed puberty Malabsorption Abnormal pyramidal sign Difficulty walking Osteopenia Dysplastic tricuspid valve


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