Therefore, delayed milestones are common presenters in "toddlers" and cerebral palsy (usually ataxic one) comes into mind [2]. [jscimedcentral.com]

A hairless, purplish-red patch is usually present in the occipital-parietal region during infancy but becomes smaller as children grow. No encephalocele is present. Hearing loss and heart defects have not been reported. Intelligence is normal. [disorders.eyes.arizona.edu]

We present a case of a 7-year-old female patient who has been under treatment since she was 1 year old. [jclpca.org]

Oscillopsia or blurred vision while reading, in lateral gaze, or with head motion can be a presenting complaint (1012,1013). [neuroophthalmology.ca]

We present a case of JS in a 7-month-old girl who presented to the pediatric outpatient clinic with developmental delay and abnormal eye movements. [pediatricneurosciences.com]

• Unable to Stand

  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]

• Difficulty Running

  Both patients showed normal gait but demonstrated difficulty running. They performed their personal self-care and their contact with other people is good. Torres et al. [45] followed-up a child for 24 months (from the age of 16 to 40 months). [jscimedcentral.com]

• Aspiration

  The patient's mother said that her girl had recurrent rapid and shallow breathings during her first month of life; a diagnosis of recurrent pulmonary aspirations was done but her chest films were always normal-looking. [jscimedcentral.com]

• Prognathism

  This facial dysmorphism encompasses long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid shaped mouth, lower lip eversion, and thick ear lobes. [jscimedcentral.com]

• Eye Movements Abnormal

  Abstract Joubert syndrome is an autosomal recessive disorder characterized by a variable combination of mental retardation, cerebellar ataxia, episodic hyperpnea, eye movement abnormalities, generalized hypotonia, and the molar-tooth sign visible on brain [jscimedcentral.com]

  A 7-month-old girl presented to the pediatric outpatient clinic with developmental delay and abnormal eye movements. [pediatricneurosciences.com]

  movement abnormalities Axial myoclonus, dystonia, vibratory loss Late onset can be pure ataxia -- 19q13.4 Protein kinase C gamma type (PRKC) Spinocerebellar ataxia (SCA15/SCA 16) OMIM #606658 Pure ataxia with slow progression Tremor Mutations or deletions [emedicine.medscape.com]

• Narrow Forehead

  forehead - Nystagmus Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anteverted nares / nostrils - Cleft lip and palate - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy [csbg.cnb.csic.es]

• Language Delays

  Speech and language delays common. [apraxia-kids.org]

  delay Laboratory findings Elevated 4-hydroxybutyric acid in plasma, urine, and CSF High free GABA in CSF Cerebellar atrophy on MRI Treatment L-carnitine supplementation has been tried with improvement in muscle tone. [emedicine.medscape.com]

• Behavior Problem

  Hodgkin et al. [30] found that behavioral problems commonly develop with increasing age. [jscimedcentral.com]

• Foot Drop

  She was wearing a foot orthosis because of bilateral flaccid ankles and foot drops. A diagnosis of spinocerebellar ataxia was made at the age of 5 years because of delayed milestones and gross gait ataxia. [jscimedcentral.com]

• Generalized Seizure

  The generalized seizures of patient 1 had been well-controlled using lamotrigine tablets (100 mg twice a day). His gait ataxia and mental retardation have not been changed since 2011. Severe visual loss has been documented in some children. [jscimedcentral.com]

• Generalized Tonic-Clonic Seizure

  He developed recurrent generalized tonic-clonic seizures during the year 2009, which were not responding to oral phenytoin. A pediatrician had diagnosed him with ataxic cerebral palsy. [jscimedcentral.com]

Careful physical and genetic workups are, therefore, necessary. As the delineation of syndromes continues, the classification of this complex condition will evolve. [medlink.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Only supportive treatment is available. [emedicine.medscape.com]

 Treatment difficulties: Varied genetic predisposition, penetrance & expressivity Recalcitrant response to therapy Associated abnormal innervation & mechanical anomalies 48.  1. [slideshare.net]

Trisomy 9p Tuberous Sclerosis Velocardiofacial Syndrome (VCF) (also called Shprintzen Syndrome, DiGeorge Sequence and, 22q11.2 deletion) Worster Drought Syndrome Credentials: Hours of Operation: Treatment locations: Address:, Phone: Email: Overall Treatment [apraxia-kids.org]

Prognosis Prognosis is favorable for moderate forms of the disease. Management of patients with more severe forms should be carried out at a specialized reference centre. [orpha.net]

However, the prognosis is still not fully understood and its outlook is not yet documented. [jscimedcentral.com]

In addition to these, retinal and renal dysplastic changes are seen in type II, which has a worse prognosis [ 13, 14 ]. [ispub.com]

The syndrome is associated with progressive worsening for kidneys, the liver and the eyes and thus require regular monitoring. [4] Prognosis [ edit ] In a sample of 19 children, a 1997 study found that 3 died before the age of 3, and 2 never learned to [en.wikipedia.org]

Etiology The syndrome is genetically heterogeneous. [orpha.net]

[…] aggressiveness self-mutilation Variants Joubert syndrome type B: association of JS with retinal dysplasia and nephronophthisis (cerebello-oculo-renal syndrome or CORS) germline mutations in RPGRIP1L JBTS3: JS with cortical polymicrogyria (AHI1 mutations) Etiology [humpath.com]

Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia-dysmorphism syndrome Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

Joubert syndrome presenting with young-age onset ischemic stroke: a possible etiologic association. J Child Neurol 2011;26:381–384. 8. Kim JT, Kim SJ, Joo CU, Cho SC, Lee DY. [labmedonline.org]

Moreover, increased intracellular Ca 2 , which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases. [emedicine.medscape.com]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.de]

Summary Epidemiology Prevalence is estimated at approximately 1/100,000. Clinical description In the neonatal period, the disease often manifests by an irregular breathing pattern (episodic tachypnea and/or apnea), and nystagmus. [orpha.net]

JS-R Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for TMEM67 Human Genome Epidemiology (HuGE) Navigator TMEM67 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TMEM67 No data available for Genatlas for TMEM67 Gene Hypomorphic mutations in meckelin (MKS3/TMEM67) [genecards.org]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.de]

Genetic counseling is an important clinical tool for preventing new cases, especially for couples with an affected first child. The risk of having an affected child in further pregnancies is 25%. [orpha.net]

Defect Ataxia with selective vitamin E deficiency Chronic ataxia Autosomal recessive 8q13.1-q13.3 Mutated alpha-tocopherol transfer protein (ATTP) binds alpha-tocopherol, enhancing its transfer between separate membranes Vitamin E likely has a role in preventing [emedicine.medscape.com]