Orofaciodigital syndrome 1
| Orofaciodigital syndrome 1 | |
|---|---|
| Other names | OFDI, OFDSI, Oral-facial-digital syndrome type 1 |
X-linked dominant manner. | |
| Specialty | Medical genetics  |
Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome,
Cause
Orofaciodigital syndrome type 1 is caused by mutations in the
Other types include:
- OMIM: 252100 Mohr syndrome; Orofaciodigital syndrome 2 at NIH's Office of Rare Diseases
- OMIM: 258860 Orofaciodigital syndrome 4 at NIH's Office of Rare Diseases
- OMIM: 300238 Orofaciodigital syndrome, Shashi type at NIH's Office of Rare Diseases
- OMIM: 277170 Varadi Papp syndrome; OFD6 at NIH's Office of Rare Diseases
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of
Diagnosis
Orofaciodigital syndrome type 1 is diagnosed through
Management
Orofaciodigital syndrome type 1 can be treated with reconstructive surgery or the affected parts of the body. Surgery of cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion. Routine treatment for patients with renal disease and seizures may also be necessary. Speech therapy and special education in the later development may also be used as management.[5]
See also
References
- ^ Online Mendelian Inheritance in Man (OMIM): 311200
- ^ PMID 16722803.
- ^ "Orofaciodigital syndrome 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-07.
- PMID 22236771.
- PMID 20301367.
Further reading
- GeneReview/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I
- Orofaciodigital syndrome Thurston type at NIH's Office of Rare Diseases
- Orofaciodigital syndrome type 2 at NIH's Office of Rare Diseases
- Orofaciodigital syndrome Gabrielli type at NIH's Office of Rare Diseases
- OFD syndrome type Figuera at NIH's Office of Rare Diseases
- OFD syndrome type 8 at NIH's Office of Rare Diseases