Hydrocephalus, and Inguinal hernia

Diseases related with Hydrocephalus and Inguinal hernia

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

Top matches:

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Other less relevant matches:

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

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

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Inguinal hernia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Abnormality of the skeletal system Macrocephaly Frontal bossing Umbilical hernia High palate Prominent forehead Muscular hypotonia Generalized hypotonia Aggressive behavior Hypospadias Craniosynostosis Polydactyly Strabismus Agenesis of corpus callosum Coarse facial features Failure to thrive Mandibular prognathia Anteverted nares Abnormal facial shape Dilatation Short stature Hyperactivity Hypertelorism Wide nasal bridge

Rare Symptoms - Less than 30% cases

Behavioral abnormality Toe syndactyly Broad hallux Hand polydactyly Thin upper lip vermilion Joint contracture of the hand Broad thumb Postaxial polydactyly Overgrowth Hip dislocation Telecanthus Cognitive impairment Anal atresia Confusion Abnormal heart morphology J-shaped sella turcica Downslanted palpebral fissures Microcornea Syndactyly Facial asymmetry Foot polydactyly Talipes equinovarus Low-set ears Hydronephrosis Ascites Attention deficit hyperactivity disorder Broad forehead Hepatosplenomegaly Vesicoureteral reflux Edema Hepatomegaly Epicanthus Esophageal atresia Patent ductus arteriosus High anterior hairline Renal hypoplasia Proptosis Retrognathia Joint laxity Abnormal cardiac septum morphology Microphthalmia Intrauterine growth retardation Cleft palate Micrognathia Joint hypermobility Metopic synostosis Broad hallux phalanx Mitral valve prolapse Camptodactyly Communicating hydrocephalus Deeply set eye Kyphosis Bicuspid aortic valve Sensorineural hearing impairment Abnormality of the dentition Ventriculomegaly Intellectual disability, mild Hearing impairment Abnormality of cardiovascular system morphology High forehead Motor delay Pain Pericardial effusion Brachydactyly Myopia Long philtrum Partial absence of the septum pellucidum Ureterocele Craniofacial asymmetry Intraventricular hemorrhage Depressivity Broad face Arachnoid cyst Narrow nose Atrial septal defect Truncus arteriosus Malar flattening Pectus excavatum Cataract Pes cavus Syringomyelia Osteoporosis Pes planus Microcephaly Abnormality of nasopharyngeal adenoids Pectus carinatum Localized skin lesion Dolichocephaly Arachnodactyly Arnold-Chiari type I malformation Obsessive-compulsive behavior Absent septum pellucidum Jaundice Thin vermilion border Short foot Sleep disturbance Retinopathy Coarctation of aorta Schizophrenia Narrow mouth Iris coloboma High hypermetropia Upslanted palpebral fissure Short nose Hypertonia Hypoplasia of the corpus callosum Hypertension Transposition of the great arteries Polymicrogyria Bulbous nose Interrupted aortic arch Aplasia/Hypoplasia of the corpus callosum Cutis marmorata Recurrent fractures Overfolded helix Sparse eyebrow Abnormality of the urinary system Clinodactyly of the 5th finger Autism Urinary incontinence Anxiety Intellectual disability, moderate Autistic behavior Joint hyperflexibility Short chin Pigmentary retinopathy Hip dysplasia Dysplastic aortic valve Intervertebral space narrowing Bifid uvula Depressed nasal bridge Developmental regression Kyphoscoliosis Dyspnea Insomnia Short neck Optic atrophy Generalized arterial tortuosity Joint stiffness Bicuspid pulmonary valve Spontaneous pneumothorax Abnormality of the skull Descending thoracic aorta aneurysm Edema of the lower limbs Beaking of vertebral bodies Increased mean corpuscular volume Postnatal growth retardation Tachycardia Inspiratory stridor Progressive hearing impairment Protruding tongue Recurrent upper respiratory tract infections Increased intracranial pressure Distal arthrogryposis Tachypnea Protuberant abdomen Thickened skin Macroglossia Abnormality of the face Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Abnormality of the cardiovascular system Cyanosis Limitation of joint mobility Thoracolumbar kyphosis Hypochromic anemia Chest pain Arnold-Chiari malformation Short digit Striae distensae Disproportionate tall stature Myopathic facies Aortic aneurysm Ectopia lentis Narrow palate Aortic dissection Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Exotropia Dental crowding Blue sclerae Heart murmur Focal seizures, afebril Dilatation of the cerebral artery Spondylolisthesis Hyperplasia of the maxilla Ascending aortic dissection Abnormality of the optic disc Pulmonary artery aneurysm Obstructive lung disease Morphological abnormality of the central nervous system Absent distal phalanges Heparan sulfate excretion in urine Mild myopia Dermal translucency Protrusio acetabuli Urinary glycosaminoglycan excretion Anisopoikilocytosis Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Fetal ascites Radial club hand Vacuolated lymphocytes Conductive hearing impairment Choanal atresia Microdontia Growth hormone deficiency Hypoplasia of the maxilla Hypodontia Everted lower lip vermilion Short philtrum Glaucoma Reduced number of teeth Visual loss Blindness Muscle weakness Abnormality of the basal ganglia High-frequency hearing impairment Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Hypoplasia of dental enamel Slurred speech Pointed chin Abnormality of the abdominal wall Finger syndactyly Delayed speech and language development Abnormally prominent line of Schwalbe Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Anterior synechiae of the anterior chamber Prominent supraorbital ridges Hypoplasia of the iris Posterior embryotoxon Megalocornea Aniridia Anal stenosis Abnormality of dental morphology Myotonia Self-injurious behavior Narrow face Postural instability Myelomeningocele Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Pheochromocytoma Hemihypertrophy Increased circulating cortisol level Hemifacial hypertrophy Impaired pain sensation Multiple lipomas Neurofibromas Skeletal muscle hypertrophy Nephroblastoma Carcinoma Neoplasm Leiomyosarcoma Hemiareflexia Choreoathetosis Protruding ear Cerebral calcification Dandy-Walker malformation Prominent nose Neurodegeneration Thick vermilion border Long face Wide mouth Difficulty walking Spasticity Gait ataxia Cerebral cortical atrophy Dementia Cerebellar hypoplasia Intellectual disability, severe Hyperreflexia Flexion contracture Hirsutism Postaxial hand polydactyly Visceromegaly Arrhinencephaly Cerebellar atrophy Ptosis Nystagmus Ataxia Microtia, third degree Abnormality of the fallopian tube Absence of the sacrum Femoral hernia Splenomegaly Anotia Aqueductal stenosis Abnormality of the optic nerve Single umbilical artery Occipital encephalocele Abnormality of the vertebral column Absent thumb Congestive heart failure Cerebral atrophy Anophthalmia Gingival overgrowth Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Metaphyseal irregularity Abnormality of the thorax Aspiration Hydrops fetalis Cardiomegaly Osteopenia Nephrotic syndrome Premature birth Hypopigmentation of the skin Abnormality of the foot Severe global developmental delay Corneal opacity Respiratory tract infection Tracheoesophageal fistula Hypoplasia of the radius Congenital diaphragmatic hernia Delayed cranial suture closure Preaxial foot polydactyly Abnormality of finger Postaxial foot polydactyly Scaphocephaly Cutaneous finger syndactyly Abnormality of digit Partial agenesis of the corpus callosum Large for gestational age Cutaneous syndactyly of toes Preaxial hand polydactyly Hyperglycemia Trigonocephaly Preaxial polydactyly Cutaneous syndactyly Plagiocephaly Accelerated skeletal maturation Medulloblastoma Abnormality of muscle fibers Renal hypoplasia/aplasia Pulmonary hypoplasia Abnormality of the outer ear Hemivertebrae Spina bifida Abnormal vertebral morphology Encephalocele Abnormal form of the vertebral bodies Renal agenesis Abnormality of the kidney Camptodactyly of toe Polyhydramnios Respiratory failure Respiratory insufficiency Anemia 1-3 toe syndactyly Duplication of the distal phalanx of hand 3-4 finger syndactyly Abnormality of calvarial morphology Ankyloglossia


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