Hydrocephalus, and Arrhythmia

Diseases related with Hydrocephalus and Arrhythmia

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Arrhythmia 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

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

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

Other less relevant matches:

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

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Arrhythmia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Apnea Generalized hypotonia Growth delay Spasticity Neoplasm Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Ataxia Microcephaly Talipes equinovarus Low-set ears Feeding difficulties Anteverted nares Arteriovenous malformation Cerebral ischemia Neurological speech impairment Finger syndactyly Telangiectasia of the skin Visceral angiomatosis Aplasia/Hypoplasia of the cerebellum Hand polydactyly Joint hyperflexibility Toe syndactyly Obesity Nausea and vomiting Frontal bossing Macrocephaly Optic atrophy Lumbar hyperlordosis Increased intracranial pressure Hypothyroidism Hyperlordosis Hyperhidrosis Hearing impairment Wolff-Parkinson-White syndrome Bradycardia Sudden cardiac death Short stature Cerebral calcification Dilated cardiomyopathy Cardiomegaly Intrauterine growth retardation Congestive heart failure Flexion contracture Absent speech Hypoglycemia Vascular neoplasm Neoplasm of the middle ear Vomiting Behavioral abnormality Pruritus Headache Retinal capillary hemangioma Severe global developmental delay Papillary cystadenoma of the epididymis Fatigue Recurrent infections Paralysis Elevated hepatic transaminase Abnormality of the lymphatic system Constipation Hypogonadism Hepatosplenomegaly Anxiety Pneumonia Postnatal growth retardation Lethargy Delayed puberty Confusion Encephalopathy Thrombocytopenia Neuroendocrine neoplasm Abnormality of the retinal vasculature Pancreatic cysts Progressive microcephaly Nystagmus Sensorineural hearing impairment Cataract Visual impairment CSF lymphocytic pleiocytosis Lymphocytosis Facial paralysis Hypertension Atrophy/Degeneration affecting the brainstem Leukopenia Gait disturbance Muscle stiffness Visual loss Leukodystrophy Glaucoma Pheochromocytoma Abnormality of the kidney Pancytopenia Retinal detachment Sensory neuropathy Migraine Multicystic kidney dysplasia Polycystic kidney dysplasia Convex nasal ridge Hemiplegia/hemiparesis Renal cell carcinoma Multiple renal cysts Capillary hemangioma Abnormality of the cerebral vasculature Abnormality of the pancreas Ventricular septal defect Hypogonadotrophic hypogonadism Vertigo Abnormality of the metaphysis Acanthosis nigricans Wormian bones Clonus Rhizomelia Dental crowding Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the ribs Short long bone Limb undergrowth Dental malocclusion Short palm Micromelia Narrow chest Joint stiffness Conductive hearing impairment Disproportionate short-limb short stature Genu varum Midface retrusion Large forehead Abnormality of the ilium Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Abnormality of the elbow Abnormality of pelvic girdle bone morphology Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Elbow dislocation Severe short stature Malar flattening Nausea Increased susceptibility to fractures Papilledema Proportionate short stature Hypopituitarism Orthostatic hypotension Polyphagia Impotence Diabetes insipidus Sleep apnea Excessive daytime somnolence Splenomegaly Increased body weight Myocardial infarction Type II diabetes mellitus Amenorrhea Hypotension Coma Sleep disturbance Prolactin excess Pituitary hypothyroidism Kyphosis Neoplasm of the anterior pituitary Abnormality of the skeletal system Brachydactyly Dysarthria Hyperreflexia Abnormality of the frontal bone Abnormality of the nasal bone Abnormal hypothalamus morphology Intracranial cystic lesion Central diabetes insipidus Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Cerebral atrophy Generalized tonic-clonic seizures Dystonia Muscular dystrophy Reduced tendon reflexes Scapular winging Frequent falls Waddling gait Tachycardia Falls Myalgia Limb-girdle muscular dystrophy Proximal muscle weakness Pes cavus Elevated serum creatine phosphokinase Hyporeflexia Pectus excavatum Skeletal muscle atrophy Motor delay Infantile muscular hypotonia Gowers sign Sclerotic vertebral endplates Moderately reduced ejection fraction Deeply set eye High forehead Abnormality of cardiovascular system morphology Failure to thrive Reduced muscle fiber merosin Muscle fiber hypertrophy Fatty replacement of skeletal muscle Skeletal muscle hypertrophy Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Neck flexor weakness Motor deterioration Spinal rigidity Generalized amyotrophy Calf muscle hypertrophy Muscle weakness Contractures of the large joints Facial asymmetry Ventricular fibrillation Peters anomaly Abnormal myocardium morphology Left ventricular noncompaction Supraventricular tachycardia Congenital glaucoma Hypoplastic left heart Ventricular tachycardia Endocardial fibroelastosis Cardiac arrest Hepatic steatosis Corneal opacity Agenesis of corpus callosum Microphthalmia Atrial septal defect Cardiomyopathy Skeletal myopathy Abnormal atrioventricular conduction Venous insufficiency Intellectual disability, profound Atrial flutter Abnormality of the thumb Macroorchidism Multiple joint contractures Aortic valve stenosis Atrial fibrillation Spastic tetraplegia Decreased activity of mitochondrial complex I Tetraplegia Kyphoscoliosis Macrotia Acute tubular necrosis Hypoplasia of the retina Increased mitochondrial number Histiocytoid cardiomyopathy Wide mouth Polymicrogyria Hypertonia Mirror image polydactyly Protruding ear Thin upper lip vermilion Upslanted palpebral fissure Long philtrum Hypoplasia of the corpus callosum High palate Fibular duplication Inability to walk Limb duplication Rudimentary to absent tibiae Premature atrial contractions Absent tibia Patellar aplasia Abnormality of the nose Preaxial foot polydactyly Attention deficit hyperactivity disorder Delayed myelination Short columella Pontocerebellar atrophy Cerebellar atrophy Respiratory insufficiency Tremor Hepatomegaly Anemia Ganglioneuroblastoma Inverted nipples Apraxia Impulsivity Laryngomalacia Hyperbilirubinemia Paraparesis Postnatal microcephaly Clumsiness Open mouth Abnormality of the wrist Broad foot Full cheeks Cryptorchidism Thin vermilion border Talipes Polydactyly Prominent forehead Dilatation Syndactyly Hypertelorism Downturned corners of mouth Asymmetric growth Abnormality of nervous system morphology Nevus flammeus Foot polydactyly Hypermelanotic macule Cutis marmorata Arnold-Chiari malformation Postaxial polydactyly Short foot Absent radius Preaxial polydactyly Aplasia/Hypoplasia of the thumb Tarsal synostosis Hallux valgus Short middle phalanx of finger Preaxial hand polydactyly Triphalangeal thumb Abnormality of the metacarpal bones Gliosis Aplasia/Hypoplasia of the corpus callosum Abnormality of the face Heterotopia Depressed nasal ridge Underdeveloped nasal alae Prominent nose Limitation of joint mobility Acromelia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Stereotypy, related diseases and genetic alterations Tremor and Camptodactyly of finger, related diseases and genetic alterations Hydrocephalus and Hypothyroidism, related diseases and genetic alterations