Athabaskan Brainstem Dysgenesis, Brown Syndrome, Congenital Fibrosis of Extraocular Muscles, Duane Radial Ray Syndrome, Duane Retraction Syndrome, Eleventh Nerve Disorder, Facial Palsy, Facial Paresis, Hereditary, Congenital, Fifth Nerve Palsy, Fourth Nerve Palsy, Horizontal Gaze Palsy, Horizontal Gaze Palsy With Progressive Scoliosis, Levator-Medial Rectus Synkinesis, Marcus Gunn Syndrome, Mobius Syndrome, Moebius Sequence, Ninth Nerve Disorder, Ocular Motility Disorders, Seventh Nerve Palsy, Sixth Nerve Palsy, Strabismus Congenital, Synkinesis, Third Nerve Palsy, Tongue Paralysis, Twelfth Nerve Disorder, Vagus Nerve Paralysis
Conditions
Keywords
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
Brief summary
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
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.
Interventions
None listed
Sponsors
Boston Children's Hospital
Howard Hughes Medical Institute
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
1 Days to No maximum
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. | Ongoing | 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. |
Countries
United States
Contacts
CONTACTBrenda J Barry, MS
CONTACTEngle Admin
PRINCIPAL_INVESTIGATORElizabeth Engle, MD
Boston Children's Hospital
Outcome results
None listed