Congenital Cranial Dysinnervation Disorders

Congenital neurodevelopmental diseases characterized by abnormal eye, eyelid, and facial movements. Congenital cranial dysinnervation disorders (CCDDs) are caused by abnormal innervation of CRANIAL NERVES (e.g., CNs III, IV and VI) resulting in aplasia or hypoplasia of the ocular and facial musculature involved in EYE MOVEMENTS.

Also Known As:

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Abducens Nerve Diseases (Sixth Nerve Palsy)
2.	Exotropia (Exophoria)
3.	Esotropia (Esophoria)
4.	congenital fibrosis of the extraocular muscles
5.	Myokymia

Experts

1.	Estermann, S S: 1 article (06/2009)
2.	Mojon, D: 1 article (06/2009)
3.	Hörantner, Robert: 1 article (04/2006)
4.	Koch, Martina: 1 article (04/2006)
5.	Langmann, Andrea: 1 article (04/2006)
6.	Lindner, Susanne: 1 article (04/2006)
7.	Wackernagel, Werner: 1 article (04/2006)
8.	Engle, Elizabeth C: 1 article (04/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Cranial Dysinnervation Disorders:

1.	Proteins (Proteins, Gene)FDA Link 07/01/2009 - "To demonstrate the clinical characteristics and determine mutations in the KIF21A gene, encoding a kinesin motor protein in patients with congenital fibrosis of the extraocular muscles (CFEOM) type 1. Patients of five families with congenital fibrosis syndrome and two simplex patients with CFEOM underwent ophthalmologic examination and mutation analysis in the KIF21A gene. " 04/01/2002 - "This atypical form of CFEOM maps to the FEOM2 locus on chromosome 11q13 and results from mutations in ARIX (PHOX2A).(6,7) ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish.(8,9) Together, these findings support the hypothesis that the congenital fibrosis syndromes result from parallel defects in nIII, nIV, and nVI nuclear development. "
2.	KinesinsIBA 07/01/2009 - "To demonstrate the clinical characteristics and determine mutations in the KIF21A gene, encoding a kinesin motor protein in patients with congenital fibrosis of the extraocular muscles (CFEOM) type 1. Patients of five families with congenital fibrosis syndrome and two simplex patients with CFEOM underwent ophthalmologic examination and mutation analysis in the KIF21A gene. "
3.	Transcription Factors (Transcription Factor)IBA 04/01/2002 - "This atypical form of CFEOM maps to the FEOM2 locus on chromosome 11q13 and results from mutations in ARIX (PHOX2A).(6,7) ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish.(8,9) Together, these findings support the hypothesis that the congenital fibrosis syndromes result from parallel defects in nIII, nIV, and nVI nuclear development. "
4.	Polytetrafluoroethylene (Teflon)FDA Link 04/01/2006 - "Three patients with consecutive exotropia after repeated operations for congenital esotropia, two patients with VI nerve palsy and residual head turn after combined convergence operation and one child with congenital fibrosis syndrome underwent muscle tendon elongation with Goretex (7-15 mm) of either the medial or the lateral rectus muscle, which had already been resected and/or recessed in former surgeries. "

Therapies and Procedures

1.

Sutures (Suture) 06/01/2009 - "It contained questions about the following topics: congenital fibrosis syndrome, Jaentsch-Brown syndrome, intermittent exotropia, maximum dosage for rectus muscle surgery, Kestenbaum surgery, sixth nerve palsy, heterophorias, myokymia of the superior oblique muscle, thyroid endocrine orbitopathy, dissociated vertical deviation, adjustable sutures, advancement of previously recessed rectus muscles, retroequatorial myopiexia, and congenital esotropia. "