A series of clinical photographs and a brief case report offer insight into the classic presentation of this uncommon disorder. [medscape.com]

Notably, endocrine abnormalities including those observed in the present case have never been reported in KIF7-associated phenotypes (Table 2). [bmcpediatr.biomedcentral.com]

The index fetus also presented with bilateral postaxial polydactyly on hands. [hindawi.com]

UniProtKB/Swiss-Prot : 72 Joubert syndrome 1: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. [malacards.org]

Several conditions have been described in which the “molar tooth sign” and characteristics of Joubert syndrome are present in addition to other findings. It is not yet clear if these conditions are variants of Joubert syndrome or separate syndromes. [rarediseases.org]

• Fishing

  Microarray Analysis and FISH Validation G-banding analysis showed that the karyotype of the index fetus was 46, XY. [hindawi.com]

• Short Arm

  Identification of a Novel Hemizygous Variant in OFD1 Whole exome sequencing identified a hemizygous variant of OFD1 located on the short arm of chromosome X (c.2488+2T>C, NM_003611.2) in the index fetus. [hindawi.com]

Management and Treatment Is there a cure for Joubert syndrome? There is no cure for Joubert syndrome. But your healthcare providers may recommend treatments to reduce symptoms and improve quality of life. [my.clevelandclinic.org]

Understanding the embryologic origins and timing of this disorder is useful in the recognition and treatment of infants with this syndrome. [medscape.com]

Standard Therapies Treatment The treatment for Joubert syndrome is symptomatic and supportive. Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy and infant stimulation. [rarediseases.org]

Endocrine re-evaluation at 2 years, documented normal levels of fT4, TSH, ACTH, and cortisol; IGF1 levels were 92 ng/ml (under GH treatment). [bmcpediatr.biomedcentral.com]

Treatment is supportive and depends on the symptoms in each person. [malacards.org]

Outlook / Prognosis What is the outlook for people with Joubert syndrome? The outlook for babies and children with Joubert syndrome depends on whether the cerebellar vermis is partially developed or completely absent. [my.clevelandclinic.org]

This indicates that the prognosis between JBTS and DWV is greatly different. Therefore, a definitive diagnosis between JBTS and DWV is critical for patient’s management, disease prediction, and genetic counseling. [hindawi.com]

Molecular genetic analysis along with imaging findings may be a good choice to help the early prenatal diagnosis and uncover the potential genetic etiology. [hindawi.com]

The cerebellum is the part of the brain that controls balance and coordination; the cerebellar vermis is involved with posture and rhythmic modulation of stereotypical movements, such as walking.[15–17] Although the precise etiology of Joubert syndrome [medscape.com]

Prevention Can I prevent Joubert syndrome? There is no way to prevent Joubert syndrome. But geneticists and genetic counselors can help determine who in your family may be at risk. [my.clevelandclinic.org]

COPD Completed NCT01554774 40 Two Years Follow up of Corneal Cor Cross-linking and Refractive Surface Ablation in Patients With Asymmetric Corneal Topography Completed NCT02943967 41 Comparison of Effect of Animal and Plant Sources of Omega-3 PUFA in Prevention [malacards.org]