Hydrocephalus, and Renal cyst

Diseases related with Hydrocephalus and Renal cyst

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Renal cyst 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 malformation syndrome characterized by renal cystic dysplasia 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 Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Other less relevant matches:

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

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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Top 5 symptoms//phenotypes associated to Hydrocephalus and Renal cyst

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Occipital encephalocele Common - Between 50% and 80% cases
Encephalocele Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Anencephaly Dandy-Walker malformation Molar tooth sign on MRI Epicanthus Global developmental delay Oral cleft Bile duct proliferation Microphthalmia Postaxial hand polydactyly Heterotopia Ventriculomegaly

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum Ventricular septal defect Meningocele Hypertelorism Strabismus Intellectual disability Cataract Cryptorchidism Generalized hypotonia Micropenis Spasticity Cognitive impairment Ptosis Cortical dysplasia Elevated serum creatine phosphokinase Cerebellar hypoplasia Renal dysplasia Exotropia Multicystic kidney dysplasia Hypoplasia of the corpus callosum Dilatation Polyhydramnios Cleft lip Hepatic fibrosis Dysphasia Ischemic stroke Hemiplegia Intracranial hemorrhage Cerebral hemorrhage Atrial septal defect Opisthotonus Cerebral palsy Visual field defect Limb dystonia Restlessness Posterior embryotoxon Hypoplasia of the iris Drooling Tetraparesis Leukoencephalopathy Babinski sign Renal insufficiency Anemia Dysarthria Cerebellar atrophy Hypertonia Dystonia Abnormal pyramidal sign Hemiparesis Stroke Polymicrogyria Hemolytic anemia Hematuria Muscle cramps Mitral valve prolapse Facial paralysis Transient ischemic attack Porencephalic cyst Nuclear cataract Short philtrum Posteriorly rotated ears High forehead Deeply set eye Abnormality of the eye Irritability Coloboma Prominent nasal bridge Absent speech Abnormality of eye movement Highly arched eyebrow Cerebellar vermis hypoplasia Open mouth Tented upper lip vermilion Multiple renal cysts Breathing dysregulation Pneumonia Malar flattening Stroke-like episode Spastic hemiparesis Tetraamelia Primitive reflex Hemianopia Pontocerebellar atrophy Schizencephaly Perivascular spaces Antenatal intracerebral hemorrhage Intellectual disability, severe Ataxia Growth delay Nystagmus Abnormal facial shape Low-set ears Hypertension Downslanted palpebral fissures Aplasia/Hypoplasia involving the pelvis Abnormally ossified vertebrae Aplasia/Hypoplasia involving the nose Cleft upper lip Preaxial polydactyly Cystic hygroma Thoracic dysplasia Hypoplastic ischia Vertebral wedging Pulmonary hypoplasia Talipes equinovarus Short ribs Cystic renal dysplasia Blindness Periventricular gray matter heterotopia Renal corticomedullary cysts Hydronephrosis Muscular dystrophy Polycystic kidney dysplasia Intestinal malrotation Opacification of the corneal stroma Abnormal internal genitalia Bowing of the long bones Intrauterine growth retardation Microcephaly Cystic liver disease Agenesis of cerebellar vermis Meningoencephalocele Hand polydactyly Micromelia Brachydactyly Respiratory insufficiency Syndactyly Thin upper lip vermilion Platyspondyly Narrow chest Decreased testicular size Severe muscular hypotonia Septo-optic dysplasia Abnormality of the ribs Optic atrophy Narrow mouth Microtia Anal atresia Iris coloboma Microcornea Abnormal lung lobation Sacral dimple Aplasia/Hypoplasia of the lungs Missing ribs Tracheal stenosis Abnormality of the larynx Vaginal atresia Aplasia/Hypoplasia of the nipples Micrognathia Narrow palpebral fissure Lissencephaly Renal cortical cysts Congenital muscular dystrophy Hypoplasia of the brainstem Nephrotic syndrome Absent septum pellucidum Retinal dysplasia Type II lissencephaly Optic nerve dysplasia Abnormality of the kidney Hearing impairment Premature birth Frontal bossing Hypospadias Patent ductus arteriosus Retrognathia Abnormality of the pinna Morning glory anomaly


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