Hydrocephalus, and Tachycardia

Diseases related with Hydrocephalus and Tachycardia

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

Top matches:

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Other less relevant matches:

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Top 5 symptoms//phenotypes associated to Hydrocephalus and Tachycardia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Talipes equinovarus Ventricular septal defect Generalized hypotonia Depressed nasal bridge Spasticity Ventriculomegaly Microcephaly Failure to thrive Abnormality of cardiovascular system morphology Syndactyly Low-set ears Feeding difficulties Dilated cardiomyopathy Finger syndactyly Atrial septal defect Congestive heart failure Arrhythmia

Rare Symptoms - Less than 30% cases

Macrocephaly Dyspnea Absent radius Prominent forehead Anemia Anteverted nares Frontal bossing Intrauterine growth retardation Optic atrophy Corneal opacity Hepatosplenomegaly Hearing impairment Polydactyly Pneumonia Cardiomegaly Kyphoscoliosis Mitral valve prolapse Postnatal growth retardation Hand polydactyly Cardiomyopathy Microphthalmia Hypospadias Abnormal heart morphology Toe syndactyly Absent speech Agenesis of corpus callosum Abnormal cardiac septum morphology Limitation of joint mobility Anal atresia Ambiguous genitalia Congenital diaphragmatic hernia Tachypnea Abnormality of the face Mitral regurgitation Preaxial hand polydactyly Anencephaly Hepatomegaly Apnea Laryngomalacia Flexion contracture Congenital glaucoma Supraventricular tachycardia Wolff-Parkinson-White syndrome Facial asymmetry Bradycardia Histiocytoid cardiomyopathy Ventricular fibrillation Preaxial polydactyly Triphalangeal thumb Cryptorchidism Hypoplastic left heart Spastic tetraplegia Hemifacial hypoplasia Choanal atresia Supernumerary ribs Abnormal sacrum morphology Small nail Premature birth Abnormality of the nasopharynx Laryngeal stenosis Vertebral clefting Lower limb undergrowth Abnormality of the intervertebral disk Abnormality of the urethra Anorectal anomaly Pulmonary hypoplasia Absence of the sacrum Abnormality of the ribs Intestinal malrotation Atrial fibrillation Vesicoureteral reflux Renal agenesis Tetralogy of Fallot Tetraplegia Macrotia Hypoplasia of penis Aortic valve stenosis Abnormality of the gallbladder Tethered cord Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Intellectual disability, profound Potter facies Ureteropelvic junction obstruction Cavernous hemangioma Multiple joint contractures Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Spina bifida Right bundle branch block Hemivertebrae Multicystic kidney dysplasia Wheezing Abnormality of the outer ear Hypoplasia of the radius Radioulnar synostosis Bundle branch block Ectopic kidney Bifid scrotum Dextrocardia Unilateral renal agenesis Situs inversus totalis Preauricular skin tag Omphalocele Duodenal atresia Tracheoesophageal fistula Abnormality of female internal genitalia Abnormality of the genital system Abnormality of the pancreas Atelectasis Recurrent urinary tract infections Rectovaginal fistula Tracheal stenosis Aplasia/Hypoplasia of the radius Renal dysplasia Single umbilical artery Missing ribs Large fontanelles Aplasia/Hypoplasia of the lungs Esophageal atresia Short thumb Abnormal vertebral morphology Occipital encephalocele Arteriovenous malformation Macroorchidism Generalized tonic-clonic seizures Impulsivity Hyperbilirubinemia Paraparesis Postnatal microcephaly Clumsiness Open mouth Apraxia Delayed myelination Inability to walk Attention deficit hyperactivity disorder Pontocerebellar atrophy Protruding ear Hypoglycemia Thin upper lip vermilion Hypothyroidism Upslanted palpebral fissure Long philtrum Hypoplasia of the corpus callosum High palate Ataxia Mirror image polydactyly Inverted nipples Ganglioneuroblastoma Limb duplication Pruritus Lymphocytosis Facial paralysis Atrophy/Degeneration affecting the brainstem Leukopenia Muscle stiffness Leukodystrophy Progressive microcephaly Pancytopenia Cerebral calcification Convex nasal ridge Severe global developmental delay Tremor Paralysis Elevated hepatic transaminase Encephalopathy Thrombocytopenia Cerebral atrophy Splenomegaly Dystonia Hypertonia Cerebellar atrophy Respiratory insufficiency Fibular duplication Rudimentary to absent tibiae Abnormality of the thumb Arnold-Chiari malformation Abnormality of nervous system morphology Visceral angiomatosis Cerebral ischemia Abnormality of the kidney Nevus flammeus Foot polydactyly Telangiectasia of the skin Hypermelanotic macule Cutis marmorata Aplasia/Hypoplasia of the cerebellum Full cheeks Hypertelorism Polymicrogyria Joint hyperflexibility Wide mouth Deeply set eye High forehead Neoplasm Sclerotic vertebral endplates Contractures of the large joints Venous insufficiency Atrial flutter Asymmetric growth Dilatation Premature atrial contractions Short middle phalanx of finger Absent tibia Patellar aplasia Abnormality of the nose Preaxial foot polydactyly Abnormality of the wrist Short columella Broad foot Aplasia/Hypoplasia of the thumb Tarsal synostosis Hallux valgus Abnormality of the metacarpal bones Talipes Aplasia/Hypoplasia of the corpus callosum Heterotopia Depressed nasal ridge Underdeveloped nasal alae Prominent nose Gliosis Short foot Downturned corners of mouth Postaxial polydactyly Thin vermilion border Respiratory tract infection Abnormality of earlobe Low-set, posteriorly rotated ears Joint stiffness Increased intracranial pressure Progressive hearing impairment Thickened skin Recurrent otitis media Pulmonary arterial hypertension Abnormality of the cardiovascular system Cyanosis Macroglossia Ascites Developmental regression Heart murmur Aggressive behavior Umbilical hernia Coarse facial features Mandibular prognathia Proptosis Hyperactivity Inguinal hernia Kyphosis Behavioral abnormality Recurrent upper respiratory tract infections Pericardial effusion Short neck Hyperplasia of the maxilla Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hypochromic anemia Protruding tongue Inspiratory stridor Thoracolumbar kyphosis Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Edema Abnormality of the skeletal system Intervertebral space narrowing Decreased activity of mitochondrial complex I Elevated serum creatine phosphokinase Hyporeflexia Pectus excavatum Skeletal muscle atrophy Motor delay Muscle weakness Acute tubular necrosis Hypoplasia of the retina Increased mitochondrial number Abnormal atrioventricular conduction Proximal muscle weakness Endocardial fibroelastosis Skeletal myopathy Peters anomaly Abnormal myocardium morphology Left ventricular noncompaction Ventricular tachycardia Cardiac arrest Sudden cardiac death Hepatic steatosis Pes cavus Myalgia Reduced muscle fiber merosin Calf muscle hypertrophy Muscle fiber hypertrophy Moderately reduced ejection fraction Fatty replacement of skeletal muscle Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Neck flexor weakness Motor deterioration Spinal rigidity Generalized amyotrophy Skeletal muscle hypertrophy Hyperlordosis Gowers sign Limb-girdle muscular dystrophy Infantile muscular hypotonia Reduced tendon reflexes Scapular winging Frequent falls Lumbar hyperlordosis Waddling gait Falls Muscular dystrophy Dermatan sulfate excretion in urine Focal seizures, afebril Hydronephrosis Abnormal eyelash morphology Periventricular leukomalacia Colpocephaly Abnormality of the testis Echolalia Retinal dysplasia Abnormal eyelid morphology Ocular albinism Sclerocornea Male pseudohermaphroditism Posterior embryotoxon Epispadias Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Hypoplasia of the uterus Dysphasia Aphasia Albinism Chordee Abnormal nasolacrimal system morphology Tricuspid regurgitation Vitritis Polyhydramnios Patent ductus arteriosus Dysphagia Cleft palate Scoliosis Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Orbital cyst Tricuspid valve prolapse Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Preauricular pit Anophthalmia Dysplastic aortic valve Abnormality of metabolism/homeostasis Hypertrophic cardiomyopathy Retrognathia Micropenis Respiratory failure Glaucoma Hypogonadism Severe short stature Visual loss Hernia Midface retrusion Blepharophimosis Blindness Respiratory distress Wide nasal bridge Cataract Abnormal facial shape Sensorineural hearing impairment Micrognathia Abnormality of nasopharyngeal adenoids Localized skin lesion Erythema Coloboma Clitoral hypertrophy Cafe-au-lait spot Patent foramen ovale Dermal atrophy Mutism Hypopigmented skin patches Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Abnormality of retinal pigmentation Skin rash Amblyopia Status epilepticus Pigmentary retinopathy Specific learning disability Hypopigmentation of the skin Retinal dystrophy Iris coloboma Wide nose Abnormality of skin pigmentation Nail dystrophy CSF lymphocytic pleiocytosis


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