Hydrocephalus, and Ventricular septal defect

Diseases related with Hydrocephalus and Ventricular septal defect

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

Top matches:

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

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

Other less relevant matches:

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

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

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Ventricular septal defect

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Macrocephaly Generalized hypotonia Postaxial hand polydactyly Microphthalmia Short stature Hypoplasia of the corpus callosum Abnormal cardiac septum morphology Hypertelorism Abnormal facial shape Cleft palate Microcephaly Hernia Cryptorchidism Depressed nasal bridge Polyhydramnios Ventriculomegaly

Rare Symptoms - Less than 30% cases

Obesity Cleft lip Blindness Oral cleft Pulmonary hypoplasia Low-set ears Anteverted nares Short chin Respiratory distress Coarse facial features Umbilical hernia Brachydactyly Anophthalmia Long palpebral fissure Feeding difficulties Growth hormone deficiency Wide nasal bridge Retrognathia Muscular hypotonia of the trunk Pulmonic stenosis Hypertrophic cardiomyopathy Severe global developmental delay Megalencephaly Cardiomyopathy Agenesis of corpus callosum Intrauterine growth retardation Absent speech Prominent forehead Ptosis Premature birth Renal cyst High forehead Short neck Dilatation Renal insufficiency Dandy-Walker malformation Periorbital fullness Severe failure to thrive Infantile spasms Cortical dysplasia Skull asymmetry Long philtrum Malar flattening Midface retrusion Micropenis Protruding tongue Macrotia Knee flexion contracture Short philtrum Microtia Large for gestational age Failure to thrive in infancy Thoracic scoliosis Growth delay Hypertonia Wide mouth Macroglossia Bifid uvula Sensorineural hearing impairment Delayed myelination Ventricular hypertrophy Small nail Failure to thrive Left ventricular hypertrophy Lissencephaly Cutis marmorata Hearing impairment Thick corpus callosum Vascular ring Capillary malformation Abnormal nasal morphology Cavum septum pellucidum Abnormal localization of kidney Dilation of lateral ventricles Abnormally large globe Patent ductus arteriosus Thin vermilion border Optic nerve hypoplasia Hypoplasia of the maxilla Attention deficit hyperactivity disorder Anterior pituitary agenesis Agenesis of incisor Asymmetric ventricles Diastolic heart murmur Strabismus Cognitive impairment Downslanted palpebral fissures Abnormal heart morphology Posteriorly rotated ears Hyperactivity Joint laxity Ichthyosis Single naris Webbed neck Eczema Sparse scalp hair Long eyelashes Hyperpigmentation of the skin Relative macrocephaly Nasal speech Redundant skin Arnold-Chiari type I malformation Deep palmar crease Slow-growing hair Small posterior fossa Short hard palate Underdeveloped tragus Dental malocclusion Bilateral cleft lip Sloping forehead Hypotelorism Coarctation of aorta Preauricular skin tag Hemivertebrae Holoprosencephaly Mitral regurgitation Patent foramen ovale Heart murmur Neurodevelopmental delay Partial agenesis of the corpus callosum Median cleft lip Skin tags Hypoplasia of the premaxilla Bilateral cleft lip and palate Abnormal cortical gyration Large forehead Panhypopituitarism Anterior pituitary hypoplasia Median cleft lip and palate Wide cranial sutures Single median maxillary incisor Semilobar holoprosencephaly Prominent antihelix Alobar holoprosencephaly Thoracic hemivertebrae Pachygyria Hepatic fibrosis Intellectual disability, profound Increased mitochondrial number Supraventricular tachycardia Wolff-Parkinson-White syndrome Left ventricular noncompaction Abnormal myocardium morphology Peters anomaly Skeletal myopathy Endocardial fibroelastosis Abnormal atrioventricular conduction Decreased activity of mitochondrial complex I Histiocytoid cardiomyopathy Hypoplasia of the retina Hypoplastic left heart Acute tubular necrosis Scoliosis Mandibular prognathia Blepharophimosis Thick eyebrow Round face Overgrowth Tall stature Narrow palpebral fissure Deep philtrum Short columella Congenital glaucoma Ventricular fibrillation Everted upper lip vermilion Anencephaly Abnormality of the kidney Nephrotic syndrome Heterotopia Renal corticomedullary cysts Periventricular gray matter heterotopia Encephalocele Bowing of the long bones Renal dysplasia Molar tooth sign on MRI Occipital encephalocele Meningocele Ventricular tachycardia Agenesis of cerebellar vermis Bile duct proliferation Meningoencephalocele Congestive heart failure Arrhythmia Corneal opacity Dilated cardiomyopathy Hepatic steatosis Sudden cardiac death Cardiomegaly Cardiac arrest Maternal diabetes Premature rupture of membranes Polymicrogyria Nephronophthisis Short phalanx of finger Rhizomelia Short ribs Oculomotor apraxia Short long bone Chronic kidney disease Cone-shaped epiphysis Glucose intolerance Thoracic hypoplasia Visual field defect Bell-shaped thorax Cerebellar vermis hypoplasia Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Lateral clavicle hook Visual impairment Motor delay Skeletal muscle atrophy Frontal bossing Intellectual disability, severe Kyphosis Narrow mouth Telecanthus Cholestasis Retinal dystrophy Micrognathia Short palpebral fissure Spasticity Delayed speech and language development Dystonia Brachycephaly Sparse hair Wide nose Broad nasal tip Chorea Congenital diaphragmatic hernia Tetraparesis Spastic tetraparesis Hepatic failure Bicornuate uterus Hypoplastic left atrium Hepatomegaly Abnormality of the skeletal system Respiratory insufficiency Splenomegaly Visual loss Nyctalopia Genu valgum Retinal degeneration Stage 5 chronic kidney disease Loose anagen hair


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