Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Study Overview
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Brief Summary
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The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

Detailed Description
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If left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. The Engle Lab has investigated the genetics of complex and common strabismus and eyelid movement disorders for over 10 years and the lab's interests have expanded to include Congenital Cranial Dysinnervation Disorders (CCDDs) which are neurological disorders affecting one or more of the 12 cranial nerves. Cranial nerves control bodily functions such as movement of the eyes, transmission of visual information, smell, facial sensation, facial expression, blinking, hearing, balance, taste, chewing and swallowing. Based on genetic studies on individuals with eye movement and eyelid disorders, the lab learned that some individuals have additional ocular defects, vascular, limb and other abnormalities. In addition, in some families relatives who carry the gene mutation may manifest the familial syndrome by having only some additional features but NOT the oculomotility disorder. Therefore, to gain greater understanding of the spectrum of the disorders being investigated, we may also enroll individuals without eye movement or lid defects who have symptoms associated with mutations in congenital cranial dysinnervation disorder (CCDD) genes.

Official Title
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Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Conditions
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Congenital Fibrosis of Extraocular Muscles, Duane Retraction Syndrome, Duane Radial Ray Syndrome, Mobius Syndrome, Brown Syndrome, Marcus Gunn Syndrome, Strabismus Congenital, Horizontal Gaze Palsy, Horizontal Gaze Palsy With Progressive Scoliosis, Facial Palsy, Facial Paresis, Hereditary, Congenital, Third Nerve Palsy, Fourth Nerve Palsy, Sixth Nerve Palsy, Synkinesis, Ocular Motility Disorders, Levator-Medial Rectus Synkinesis, Athabaskan Brainstem Dysgenesis, Tongue Paralysis, Ninth Nerve Disorder, Fifth Nerve Palsy, Seventh Nerve Palsy, Eleventh Nerve Disorder, Twelfth Nerve Disorder, Vagus Nerve Paralysis, Moebius Sequence

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: The Engle Lab is very interested in enrolling individuals with congenital conditions related to eye movement, cranial nerve and brainstem-based dysfunction, often broadly referred to as congenital cranial dysinnervation disorders (CCDDs). Exclusion Criteria: Individuals with cranial nerve disorders associated with known disorders, such as Saethre-Chotzen associated with established genetic mutations, or acquired conditions including trauma, stroke, tumor or spinal cord injuries.

Ages Eligible for Study
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Minimum Age: 1 Day

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identifying and characterizing genes important in normal development and function of the ocular motility system, cranial nerves and brainstem and associated with congenital cranial dysinnervation disorders and related anomalies. | This is an observational, descriptive study with no interventions geared towards identifying novel genes and characterizing their function, expression and impact on human cranial nerve development and disease. As genes previously undescribed in the human population are identified and characterized, reports regarding these details will be written and published but such timelines are impossible to predict. Also, as new information on previously identified genes is gathered generated, additional reports will be issued through scientific publications. As long as funding is available, the work will proceed in a rolling, ongoing timeline. | Ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CFEOM (Congenital Fibrosis of Extraocular Muscles), CCDD (Congenital Cranial Dysinnervation Disorders), DRS (Duane Retraction Syndrome), DRRS (Duane Radial Ray Syndrome), Strabismus, MGJWS (Marcus Gunn Jaw Winking Syndrome), HGP (Horizontal Gaze Palsy), HGPPS (Horizontal Gaze Palsy with Progressive Scoliosis), Moebius