A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. [nectarmutation.org]

Typical features if age of presentation is >1 y: Hematuria Proteinuria Hypertension Usual age of presentation is 30-50 y. [drdebasismaity.com]

Neonates present with hypertension, abdominal masses, and variable degrees of renal failure. Adults typically present with flank pain, hematuria, and hypertension. [emedicine.medscape.com]

The majority of patients present in infancy, although presentation can occasionally be as late as early adulthood. [hawaii.edu]

The term Joubert syndrome and related disorders (JSRD) has been recently adopted to describe disorders presenting the MTS. [annalsofian.org]

• Disability

  Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]

  Part 1 - Recognised Disabilities Moderate to severe multiple disability or moderate to severe physical disability (including neurological disability) where the child is, or is likely to be, dependent for mobility indoors and outdoors from the age of three [dss.gov.au]

  1 Causes of Biparietal Narrowing : 15q14 Microdeletion Syndrome 16q24.3 Microdeletion Syndrome 1q44 Microdeletion Syndrome 3q29 Microduplication 8p23.1 Microdeletion Syndrome Allan-Herndon-Dudley Syndrome Alopecia-Contractures-Dwarfism-Intellectual Disability [familydiagnosis.com]

  Some children with SOD have normal intelligence, while others may be developmentally delayed, learning disabled, or intellectually disabled. Some symptoms of this disorder can be treated, but the visual impairment usually cannot be corrected. [tsbvi.edu]

  – a child with Angelman syndrome will have delayed development in all areas and disability is severe in most cases. [betterhealth.vic.gov.au]

• Movement Disorder

  SMA is a genetic disorder that affects the control of muscle movement. [disabled-world.com]

  […] syndrome Neurological Lissencephaly Neurological Lowe oculocerebrorenal syndrome Neurological Marinesco-Sjögren syndrome Neurological Menkes disease Neurological Microcephaly-capillary malformation syndrome Neurological Motor neuropathy Neurological Movement [genomediagnosticsnijmegen.nl]

  Hyperkinetic movement disorders in children. In: UpToDate Online Journal [serial online]. Waltham, MA: UpToDate; updated April 2007. Weber S, Tonshoff B. [aetna.com]

  choreoathetoid movements, excessive oral secretions, excessive sweating, global development delay, hyponatraemia, severe GI dysmotility Approved trihexyphenidyl Complex Mitochondrial Disorder, choreoathetoid movements, excessive oral secretions, excessive [pharmac.govt.nz]

• Respiratory Insufficiency

  insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093 7 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196 8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463 9 visual impairment 60 33 frequent (33%) Frequent (79- [malacards.org]

  The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. [mendelian.co]

  Approximately 30% of affected infants die in the neonatal period or within the first year of life primarily of respiratory insufficiency or superimposed pulmonary infections. [ncbi.nlm.nih.gov]

• Vomiting

  Liver disease can result in fatigue, weight loss, vomiting, nausea, and jaundice. See also: diabetes, obesity, liver transplant, prostate cancer, anemia. [ykassd.com]

  Distress Syndrome (ARDS) Apraxia Arthritis Awareness Beat Bullying (UK) Brachial Plexus Injuries - (Also Silver Ribbon with a bell) Canada's National Non Smoking Week Charge Syndrome (Royal Blue) Colon Cancer Colorectal Cancer Cri du Chat Syndrome Cyclic Vomiting [disabled-world.com]

  At 8 mo of age, he presented with vomiting presumed to be secondary to acute gastroenteritis, and elevated transaminase levels were detected. Liver and spleen were not enlarged. [pnas.org]

  Alagille's syndrome, complex congenital heart disease, tetralogy of fallot repair Approved cyproheptadine Cyclical vomiting, Hydrocephalus, VP shunt Approved cysteamine Cystinosis Approved cysteamine Cystinosis Approved renewal cysteamine Cystinosis [pharmac.govt.nz]

  Neurological [ edit ] Three types of brain tumours are associated with TSC: Giant cell astrocytoma: (grows and blocks the cerebrospinal fluid flow, leading to dilatation of ventricles causing headache and vomiting) Cortical tubers: after which the disease [en.wikipedia.org]

• Nausea

  Anxiety attacks are debilitating physical events in which sufferers experience shortness of breath, nausea, dizziness, and heart palpitations. [ykassd.com]

  […] follicular carcinoma of thyroid, bone metastases, liver metastases Approved pazopanib metastatic sarcoma, soft tissue sarcoma Declined pazopanib thyroid carcinoma Approved pediasure failure to thrive, gastrostomy feeding, Growth hormone deficiency, nausea [pharmac.govt.nz]

• Liver Fibrosis

  COACH syndrome has many of the same features as Joubert syndrome, with the addition of liver fibrosis that is present at birth. [sema4genomics.com]

  Given that Public Health Relevance Joubert syndrome and related disorders (JSRD) provide a model for studying intellectual disability, ataxic cerebral palsy, retinal dystrophy, cystic kidney disease and liver fibrosis. [grantome.com]

  […] and chronic inflammation Minimal to advanced glomerulosclerosis Cysts at corticomedullary border lined by flattened or cuboidal epithelium Liver biopsy may show congenital hepatic fibrosis Microscopic (histologic) images Images hosted on other servers [pathologyoutlines.com]

  Some of these genes have also been associated with extra-renal features such as retinal dystrophy, liver fibrosis, and pancreatic cysts. [invitae.com]

  Using exome sequencing, we describe a syndrome associated with homozygous loss of Acyl CoA Oxidase 2 ( ACOX2 ) featuring elevated transaminase levels, liver fibrosis, ataxia, and cognitive impairment. [pnas.org]

• Visual Impairment

  impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 10 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 11 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276 12 abnormality of movement 60 33 frequent (33%) Frequent [malacards.org]

  Some symptoms of this disorder can be treated, but the visual impairment usually cannot be corrected. [tsbvi.edu]

  Feeding difficulties Single naris Microcephaly Scoliosis Motor delay Muscle weakness Flexion contracture Visual impairment Myopia Poor speech Microphthalmia Elevated serum creatine phosphokinase Polyhydramnios Glaucoma Reduced visual acuity Neonatal [mendelian.co]

  This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. [annalsofian.org]

  Rehabilitation strategies must be planned for cognitive and behavioral difficulties and specific manifestations such as the visual impairment. [ojrd.biomedcentral.com]

• Visual Impairment

  impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 10 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 11 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276 12 abnormality of movement 60 33 frequent (33%) Frequent [malacards.org]

  Some symptoms of this disorder can be treated, but the visual impairment usually cannot be corrected. [tsbvi.edu]

  Feeding difficulties Single naris Microcephaly Scoliosis Motor delay Muscle weakness Flexion contracture Visual impairment Myopia Poor speech Microphthalmia Elevated serum creatine phosphokinase Polyhydramnios Glaucoma Reduced visual acuity Neonatal [mendelian.co]

  This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. [annalsofian.org]

  Rehabilitation strategies must be planned for cognitive and behavioral difficulties and specific manifestations such as the visual impairment. [ojrd.biomedcentral.com]

• Strabismus

  […] frequent (33%) Frequent (79-30%) HP:0004322 11 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276 12 abnormality of movement 60 33 frequent (33%) Frequent (79-30%) HP:0100022 13 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 14 strabismus [malacards.org]

  Hyperplasia of iris Narrow palpebral fissures (the opening between upper and lower eyelids) High myopia Strabismus Cataracts Grey spots on the iris Duane’s Syndrome A congenital rare type of strabismus. [tsbvi.edu]

  COLLINS SYNDROME 1; TCS1 Is also known as treacher collins-franceschetti syndrome;tcof, treacher collins syndrome;tcs, mandibulofacial dysostosis;mfd1 Related symptoms: Autosomal dominant inheritance Intellectual disability Hearing impairment Micrognathia Strabismus [mendelian.co]

  Patient and Methods Clinical Report The proband is a 6-year-old girl, referred to our department, who presented with generalized hypotonia, ataxia, speech delay, low-set ears, ptosis, strabismus, clinodactyly, and a history of psychomotor developmental [karger.com]

  Primary position nystagmus is also common, while occasionally associated features include strabismus and ptosis. [ojrd.biomedcentral.com]

• Diplopia

  IN POSIZIONE PRIMARIA 5011 DIPLOPIA NELLO SGUARDO IN ALTO 5012 DIPLOPIA NELLO SGUARDO IN BASSO 5013 DIPLOPIA NELLO SGUARDO LATERALE 5014 DISCROMATOPSIA CONGENITÀ O ACQUISITA 5015 EMIANOPSIA BINASALE 5016 EMIANOPSIA BITEMPORALE 5017 EMIANOPSIA INFERIORE [studioaquilani.it]

  IN POSIZIONE PRIMARIA 5011 DIPLOPIA NELLO SGUARDO IN ALTO 5012 DIPLOPIA NELLO SGUARDO IN BASSO 5013 DIPLOPIA NELLO SGUARDO LATERALE 5014 DISCROMATOPSIA CONGENITA O ACQUISITA 5015 EMIANOPSIA BINASALE 5016 EMIANOPSIA BITEMPORALE 5017 EMIANOPSIA INFERIORE [cfsitalia.it]

• Low-Set Posteriorly Rotated Ears

  posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368 25 meningocele 60 33 frequent (33%) Frequent (79-30%) HP:0002435 26 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581 27 abnormality of the eye 60 Frequent [malacards.org]

• Short Nose

  nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196 8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463 9 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 10 short stature 60 33 frequent (33%) Frequent (79-30%) [malacards.org]

• Narrow Face

  Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large jaw, and speech and language disorders. [aetna.com]

• Nystagmus

  Congenital cataracts Infantile glaucoma Nystagmus Marchesani's Syndrome This is an autosomal recessive syndrome that results in multiple skeletal abnormalities. [tsbvi.edu]

  Primary position nystagmus is also common. Five of our patients (55.6%) were associated with nystagmus. The nystagmus was horizontal pendular and upbeat nystagmus. [annalsofian.org]

  Source Accession 1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508 2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249 3 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612 4 nystagmus [malacards.org]

  The boy demonstrated poor language development, bidirectional horizontal gaze-evoked nystagmus, instability of stance, and wide-based ataxic gait; he was unable to stand and walk without major assistance. [jscimedcentral.com]

  Retrognathia Micropenis Neurodegeneration Abnormality of the pinna Iris coloboma Preauricular skin tag Hydranencephaly Large fontanelles Hypoplasia of the corpus callosum Dyspnea Retinopathy Apnea Pulmonary hypoplasia Apraxia Gait disturbance Hepatic fibrosis Nystagmus [mendelian.co]

• Paresis

  CON DEFICIT DI FORZA MEDIO 7340 PARESI DELL'ARTO SUPERIORE DOMINANTE CON DEFICIT DI FORZA LIEVE 7341 PARESI DELL'ARTO SUPERIORE DOMINANTE CON DEFICIT DI FORZA MEDIO 7342 PARESI DELL'ARTO SUPERIORE DOMINANTE CON DEFICIT DI FORZA GRAVE O PLEGIA 7343 PARESI [studioaquilani.it]

  […] osteodysplasticum Multiple congenital anomalies (MCA) GM1-gangliosidosis Multiple congenital anomalies (MCA) Guttmacher syndrome Multiple congenital anomalies (MCA) Hartsfield syndrome Multiple congenital anomalies (MCA) Hereditary congenital facial paresis [genomediagnosticsnijmegen.nl]

• Quadriplegia

  Klumpke paralysis, where an injury paralyzes the hand, wrist, and fingers), the lower half and sometimes middle portion of the body (paraplegia), or the entire body from the neck down (quadriplegia/tetraplegia). [ykassd.com]

  Approved chloral hydrate seizure disorder, cerebral palsy, Incontinence, intellectual handicap, scoliosis, spastic quadriplegia Approved chloral hydrate severe sleep disorder, Complex Mitochondrial Disorder, gastrotomy fed, global development delay Approved [pharmac.govt.nz]

Progress logically from the histologic pattern, through the appropriate workup, around the pitfalls, to the best diagnosis. [books.google.de]

A clinical geneticist or genetic counselor familiar with Alagille syndrome should review the results of the workup of a parent or relative to try to determine the recurrence risk for the individual. [chop.edu]

• Occipital Encephalocele

  Meckel syndrome often manifests before birth and is characterized by occipital encephalocele, brain malformations, facial dysmorphism, renal agenesis, and extra digits. [sema4genomics.com]

  encephalocele 33 HP:0002085 32 agenesis of cerebellar vermis 33 HP:0002335 33 postaxial polydactyly 33 HP:0100259 34 periportal fibrosis 33 HP:0001405 [malacards.org]

  encephalocele Polydactyly Craniofacial dysplasia Small to normal-sized kidneys Polydipsia and polyuria Mild proteinuria with benign urinary sediment ESRD possibly during childhood Zellweger syndrome (cerebrohepatorenal syndrome) Brain and liver defects [msdmanuals.com]

  Other common features seen in subsets of JSRD patients include, fibrocystic renal disease, congenital hepatic fibrosis, retinal degeneration, retinal colobomas, occipital encephalocele, and polydactyly. [clinicaltrials.gov]

Treatment may include: Pain medication Surgery to shrink cysts and relieve pain Treatment for high blood pressure Treatment for urinary tract infections Dialysis Kidney transplantation Autosomal recessive PKD (inherited) Autosomal recessive PKD is a rare [stanfordchildrens.org]

Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]

TREATMENT: No cure. Those who survive require treatment for hypertension, CCF, renal and hepatic failure. Portal hypertension is dealt with Warrant Shunt. ? Treatment of oesophageal varices, if needed. [drdebasismaity.com]

This research will directly benefit individuals with JSRD and their families through improved diagnostic, prognostic and recurrence risk information, as well as monitoring and early treatment for medical complications. [grantome.com]

Part 2 - Medical Conditions Chronic or end stage organ failure where the child is receiving organ specific treatment and/or awaiting transplant. [dss.gov.au]

FAVOREVOLE CON MODESTA COMPROMISSIONE FUNZIONALE 9323 NEOPLASIE A PROGNOSI FAVOREVOLE CON GRAVE COMPROMISSIONE FUNZIONALE 9324 SINDROME DI TURNER 9325 NEOPLASIE A PROGNOSI INFAUSTA O PROBABILMENTE SFAVOREVOLE NONOSTANTE ASPORTAZIONE CHIRURGICA 9326 SCLERODERMIA [studioaquilani.it]

The prognosis of patients depends mainly on the degree of brain malformation. 1. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. [annalsofian.org]

ESRD in persons with the PKD1 genotype occurs at a mean age of 53 years, while the onset of ESRD in persons with the PKD2 genotype occurs at a mean age of 69 years. [7] In addition, studies have suggested that the type of PDK1 mutation also affects prognosis [emedicine.medscape.com]

Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. In particular, recurrent episodes of prolonged apneas can be life-threatening and require assisted ventilation. [ojrd.biomedcentral.com]

PATOLOGIA NEOPLASTICA min. max. fisso 9322 NEOPLASIE A PROGNOSI FAVOREVOLE CON MODESTA COMPROMISSIONE FUNZIONALE 0 0 11 9323 NEOPLASIE A PROGNOSI FAVOREVOLE CON GRAVE COMPROMISSIONE FUNZIONALE 0 0 70 9325 NEOPLASIE A PROGNOSI INFAUSTA O PROBABILMENTE [cfsitalia.it]

Renal cell carcinoma (RCC) develops in as many as 40% of patients. [25] Acquired cystic renal disease Acquired renal cystic disease (ARCD) may be found in patients with all etiologies of ESRD, particularly in those who are dialysis dependent. [emedicine.medscape.com]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

Acquired cystic renal disease Acquired cystic disease may be found in patients with all etiologies of ESRD, particularly in patients who are dialysis-dependent. Hemorrhagic cysts occur in 50% of patients. [homeopathyworldcommunity.ning.com]

A detailed three-generation family history focusing on hepatorenal fibrocystic disease, CHF/CS, liver or kidney disease of unknown etiology, and the associated findings of the multisystem disorders discussed in this GeneReview can be used to help determine [ncbi.nlm.nih.gov]

Autosomal Recessive Polycystic Kidney Disease (ARPKD) REMEMBER: Epidemiology: Incidence is 1:40,000 live births If not apparent at birth, disease will be apparent in late childhood upto 13 y of age. [drdebasismaity.com]

[…] general Group of autosomal recessive disorders characterized by corticomedullary cysts, atrophy and interstitial fibrosis "Phthisis" (Greek): dwindling or wasting away Also referred to as juvenile nephronophthisis medullary cystic kidney disease complex Epidemiology [pathologyoutlines.com]

Epidemiology [ edit ] TSC occurs in all races and ethnic groups, and in both genders. The live-birth prevalence is estimated to be between 10 and 16 cases per 100,000. [en.wikipedia.org]

Epidemiology Although the incidence of JSRD has not been precisely determined, it may range between 1/80,000 and 1/100,000 live births, but may be underestimated [ 16, 17 ]. [ojrd.biomedcentral.com]

Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Am J Hum Genet. 1997;61:660-667. Gonnaud PM, Sturtz F, Bonnebouche C, et al. [aetna.com]

Pathophysiology [ edit ] Hamartin and tuberin function as a complex which is involved in the control of cell growth and cell division. [en.wikipedia.org]

Pathophysiology Cysts develop from renal tubule segments and most detach from the parent tubule after they grow to a few millimeters in size (Psora/ Syphilis). [homeopathyworldcommunity.ning.com]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

Metabolic defects prevent the body from properly breaking down food to create energy. [m.kidshealth.org]

Greater understanding of the development/function of the brain, retina, kidney and liver through the study of this relatively rare disorder will facilitate the prevention and treatment of more common disorders of these organ systems and benefit society [grantome.com]

In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. Cystic Fibrosis occurs at a rate of 1 in 2,500–6,000 newborns. [eloxxpharma.com]

[…] endometriosis (when tissue usually found in the uterus is found outside the uterus which can develop into cysts), a previous ectopic pregnancy (when the egg implants somewhere outside the uterus), and tubal ligation (when the Fallopian tubes have been tied to prevent [thebridgeclinic.com]

The child has a change (mutation) in the UBE3A gene on chromosome 15, which prevents its expression or function. (This causes ~11 per cent of cases.) The child inherits two copies of chromosome 15 from the father. [betterhealth.vic.gov.au]