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]

• Developmental Delay

  Developmental delays may be treated with: Infant stimulation. Occupational therapy. Physical therapy. Speech therapy. [my.clevelandclinic.org]

  delay.[9] Since then, approximately 200 additional cases have been published in the literature[4–7,10–12]; only 2 of these cases were diagnosed prenatally.[13,14] Males and females are equally affected.[3] The most common presenting feature in the newborn [medscape.com]

  Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy and infant stimulation. [rarediseases.org]

  Peer Review reports Background Joubert syndrome (JBTS, MIM PS213300) constitutes a clinically heterogeneous group of developmental delay/multiple congenital anomalies disorders [1]. [bmcpediatr.biomedcentral.com]

• Multiple Congenital Anomalies

  Our study suggested that WES would be a helpful testing to diagnose the pregnancies with multiple congenital anomalies detected by prenatal ultrasound, and an effective method for differential diagnosis between some rare diseases, such as JBTS and DWV [hindawi.com]

  Peer Review reports Background Joubert syndrome (JBTS, MIM PS213300) constitutes a clinically heterogeneous group of developmental delay/multiple congenital anomalies disorders [1]. [bmcpediatr.biomedcentral.com]

  KEGG : 36 Joubert syndrome and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. [malacards.org]

• Liver Fibrosis

  Joubert syndrome is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins. [malacards.org]

• Low Set Ears

  Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth. [medlineplus.gov]

  Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth.Joubert syndrome can include a broad [malacards.org]

  Craniofacial dysmorphism (sparse hair, hypertelorism, thick eyebrow, bilateral ptosis, short columella, low-set ears, and signs of cleft lip and palate correction by surgery), flat-overpronated feet with bilateral calcaneovalgus deformity, and severe [bmcpediatr.biomedcentral.com]

• Hypertelorism

  Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth. [medlineplus.gov]

  Accordingly with ACL phenotype, craniofacial dysmorphism, including macrocephaly with frontal bossing, hypertelorism, downslanting palpebral fissures, ptosis and strabismus, depressed nasal tip and cleft lip and palate, were also noted (Table 2). [bmcpediatr.biomedcentral.com]

  Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth.Joubert syndrome can include a broad [malacards.org]

• Ataxia

  […] vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [malacards.org]

  Hypotonia during infancy that develops into ataxia in childhood. Molar tooth sign on MRI. Management and Treatment Is there a cure for Joubert syndrome? There is no cure for Joubert syndrome. [my.clevelandclinic.org]

  Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood. [medlineplus.gov]

  The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone. [rarediseases.org]

  Introduction Joubert syndrome (JBTS) is characterized by cerebellar vermian, mid-hindbrain dysgenesis, cerebellar ataxia, developmental delay, oculomotor apraxia, and abnormalities in breathing patterns [1]. [hindawi.com]

• Apraxia

  Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). [medlineplus.gov]

  The second reported family included an affected subject having a mild form of JBTS phenotype characterized by hypotonia, DD, ataxia, oculomotor apraxia, nystagmus and bilateral ptosis. [bmcpediatr.biomedcentral.com]

  Introduction Joubert syndrome (JBTS) is characterized by cerebellar vermian, mid-hindbrain dysgenesis, cerebellar ataxia, developmental delay, oculomotor apraxia, and abnormalities in breathing patterns [1]. [hindawi.com]

• Nystagmus

  Some of the other problems that may be associated with Joubert syndrome include eye abnormalities such as abnormal development of the retina, abnormality in the iris (coloboma), abnormal eye movements (nystagmus), crossed eyes (strabismus), and drooping [rarediseases.org]

  Additional features including microphthalmia, iris and retinochoroidal coloboma, nystagmus, which are rarely seen in both ACLS/JBTS12 and JBTS26, were here present. [bmcpediatr.biomedcentral.com]

  58 31 hallmark (90%) Very frequent (99-80%) HP:0001320 6 oculomotor apraxia 58 31 very rare (1%) Very frequent (99-80%) HP:0000657 7 episodic tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002876 8 hypotonia 31 hallmark (90%) HP:0001252 9 nystagmus [malacards.org]

• Cerebellar Ataxia

  Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Review. [medlineplus.gov]

  Introduction Joubert syndrome (JBTS) is characterized by cerebellar vermian, mid-hindbrain dysgenesis, cerebellar ataxia, developmental delay, oculomotor apraxia, and abnormalities in breathing patterns [1]. [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]

• Delayed Speech and Language Development

  speech and language development 31 very rare (1%) HP:0000750 40 microcephaly 31 very rare (1%) HP:0000252 41 nephropathy 31 very rare (1%) HP:0000112 42 hepatic fibrosis 31 very rare (1%) HP:0001395 43 plagiocephaly 31 very rare (1%) HP:0001357 44 optic [malacards.org]

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]