Skip to main content
SpringerLink
Log in

Otopalatodigital Spectrum Disorders

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 371 Accesses

Abstract

Otopalatodigital spectrum disorders, a heterogeneous group of disorders characterized primarily by a skeletal dysplasia of variable severity, include otopalatodigital syndrome type I (OPD I), otopalatodigital syndrome type II (OPD II), frontometaphyseal dysplasia (FMD), and Melnick-Needles syndrome (MNS).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

References

  • André, M., Vigneron, J., & Didier, F. (1981). Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndrome. Journal of Pediatrics, 98, 747–752.

    Article  PubMed  Google Scholar 

  • Dereymaeker, A. M., Christens, J., Eeckels, R., et al. (1986). Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. Helveltica Paediatrica Acta, 41, 339–351.

    CAS  Google Scholar 

  • Donnenfeld, A. E., Conard, K. A., Roberts, N. S., et al. (1987). Melnick-needles syndrome in males: A lethal multiple congenital anomalies syndrome. American Journal of Medical Genetics, 27, 159–173.

    Article  CAS  PubMed  Google Scholar 

  • Dudding, B. A., Gorlin, R. J., & Langer, L. O., Jr. (1967). The oto-palato-digital syndrome: A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. American Journal of Diseases of Children, 113, 214–221.

    Article  CAS  PubMed  Google Scholar 

  • Eccles, D. M., Moore, I. E., Cook, S., et al. (1994). Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. Clinical Dysmorphology, 3, 175–179.

    Article  CAS  PubMed  Google Scholar 

  • Fitch, N., Jequier, S., & Papageorgiou, A. (1976). A familial syndrome of cranial, facial, oral and limb anomalies. Clinical Genetics, 10, 226–231.

    Article  CAS  PubMed  Google Scholar 

  • Fitch, N., Jequier, S., & Gorlin, R. (1983). The oto-palato-digital syndrome, proposed type II. American Journal of Medical Genetics, 15, 655–664.

    Article  CAS  PubMed  Google Scholar 

  • Fox, J. W., Lamperti, E. D., Ekşioğlu, Y. Z., et al. (1998). Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron, 21, 1315–1325.

    Article  CAS  PubMed  Google Scholar 

  • Gorlin, R. J., & Cohen, M. M., Jr. (1969). Frontometaphyseal dysplasia: A new syndrome. American Journal of Diseases of Children, 118, 487–494.

    Article  CAS  PubMed  Google Scholar 

  • Gorlin, R. J., & Winter, R. B. (1980). Frontometaphyseal dysplasia – Evidence for X-linked inheritance. American Journal of Medical Genetics, 5, 81–84.

    Article  CAS  PubMed  Google Scholar 

  • Gorlin, R. J., Poznanski, A. K., & Hendon, I. (1973). The oto-palato-digital (OPD) syndrome in females. Oral Surgery, Oral Medicine, and Oral Pathology, 35, 218–224.

    Article  CAS  PubMed  Google Scholar 

  • Guerrini, R., Mei, D., Sisodiya, S., Sicca, F., et al. (2004). Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology, 63, 51–56.

    Article  CAS  PubMed  Google Scholar 

  • Kanemura, T., Orii, T., & Ohtani, M. (1979). Frontometaphyseal dysplasia with congenital urinary tract malformations. Clinical Genetics, 16, 399–404.

    Article  CAS  PubMed  Google Scholar 

  • Kung, D. S., & Sloan, G. M. (1998). Cranioplasty in frontometaphyseal dysplasia. Plastic and Reconstructive Surgery, 102, 1144–1146.

    Article  CAS  PubMed  Google Scholar 

  • Lan, C. C., Hung, K. F., Liao, Y. F., et al. (2006). Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. Journal of the Formosan Medical Association, 105, 77–79.

    Article  PubMed  Google Scholar 

  • Leggett, J. M. (1988). Laryngo-tracheal stenosis in frontometaphyseal dysplasia. Journal of Laryngology and Otology, 102, 74–78.

    Article  CAS  PubMed  Google Scholar 

  • Mariño-Enríquez, A., Lapunzina, P., Robertson, S. P., et al. (2007). Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G > T mutation: Clinical, pathological, and molecular findings. American Journal of Medical Genetics Part A, 143A, 1120–1125.

    Article  PubMed  Google Scholar 

  • Mehta, Y., & Schou, H. (1988). The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome). Acta Anaesthesiologica Scandinavica, 32, 505–507.

    Article  CAS  PubMed  Google Scholar 

  • Melnick, J. C., & Needles, C. (1966). An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations. American Journal of Roentgenology Radium Therapy and Nuclear Medicine, 97, 39–48.

    Article  CAS  Google Scholar 

  • Moutton, S., Fergelot, P., Naudion, S., et al. (2016). Otopalatodigital spectrum disorders: Refinement of the phenotypic and mutational spectrum. Journal of Human Genetics, 2016, 1–7.

    Google Scholar 

  • Murphy-Ryan, M., Babovic-Vuksanovic, D., & Lindor, N. (2011). Bifid tongue, corneal clouding, and Dandy–Walker malformation in a male infant with otopalatodigital syndrome type 2. American Journal of Medical Genetics Part A, 155, 855–859.

    Article  CAS  Google Scholar 

  • Naudion, S., Moutton, S., Coupry, I., et al. (2016). Fetal phenotypes in otopalatodigital spectrum disorders. Clinical Genetics, 89, 371–377.

    Article  CAS  PubMed  Google Scholar 

  • Parrini, E., Mei, D., Wright, M., et al. (2004). Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Neurogenetics, 5, 191–196.

    Article  CAS  PubMed  Google Scholar 

  • Parrini, E., Ramazzotti, A., Dobyns, W. B., et al. (2006). Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations. Brain, 129, 1892–1906.

    Article  CAS  PubMed  Google Scholar 

  • Parrini, E., Mei, S., Pisanti, M. A., et al. (2015). Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. Journal of Medical Genetics, 52, 405–412.

    Article  CAS  PubMed  Google Scholar 

  • Robertson, S. P. (2005). Filamin a: Phenotypic diversity. Current Opinion in Genetics and Development, 15, 301–307.

    Article  CAS  PubMed  Google Scholar 

  • Robertson, S. P. (2007). Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. European Journal of Human Genetics, 15, 3–9.

    Article  CAS  PubMed  Google Scholar 

  • Robertson, S. (2013). Otopalatodigital spectrum disorders. GeneReviews. Retrieved 2 May 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1393

  • Robertson, S., Gunn, T., Allen, B., et al. (1997). Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. American Journal of Medical Genetics, 71, 341–347.

    Article  CAS  PubMed  Google Scholar 

  • Robertson, S. P., Walsh, S., Oldridge, M., et al. (2001). Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1. American Journal of Human Genetics, 69, 223–227.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Robertson, S. P., Twig, S. R. F., Sutherland-Smith, A. J., et al. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33, 487–491.

    Article  CAS  PubMed  Google Scholar 

  • Robertson, S. P., Thompson, S., Morgan, T., et al. (2006). Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics, 14, 549–554.

    Article  CAS  PubMed  Google Scholar 

  • Sankararaman, S., Kurepa, D., Kakkilaya, V., et al. (2013). Otopalatodigital syndrome type 2 in a male infant: A caser report with a novel sequence radiation. Journal of Pediatric Genetics, 2, 33–36.

    PubMed  PubMed Central  Google Scholar 

  • Santos, H. H., Garcia, P. P., Pereira, L., et al. (2010). Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. American Journal of Medical Genetics A, 152A, 726–731.

    Article  Google Scholar 

  • Sheen, V. L., Jansen, A., Chen, M. H., et al. (2005). Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology, 64, 254–262.

    Article  CAS  PubMed  Google Scholar 

  • Stratton, R. F., & Bluestone, D. L. (1991). Oto-palato-digital syndrome type II with X lined cerebellar hypoplasia/hydrocephalus. American Journal of Medical Genetics, 41, 169–172.

    Article  CAS  PubMed  Google Scholar 

  • Sun, Y., Almomani, R., Aten, E., et al. (2010). Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics, 87, 146–153.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Taybi, H. (1962). Generalized skeletal dysplasia with multiple anomalies: A note on Pyle’s disease. American Journal of Roentgenology, 88, 450–457.

    CAS  Google Scholar 

  • Unger, S., Mainberger, A., Spitz, C., et al. (2007). Filamin A mutation is one cause of FG syndrome. American Journal of Medical Genetics A, 143A, 1876–1879.

    Article  Google Scholar 

  • Verloes, A., Lesenfants, S., Barr, M., et al. (2000). Frontootopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. American Journal of Medical Genetics, 90, 407–422.

    Article  CAS  PubMed  Google Scholar 

  • Weh, E., Reis, L. M., Happ, H. C., et al. (2014). Whole exome sequence analysis of Peters anomaly. Human Genetics, 133, 1497–1511.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Young, K., Barth, C. K., Moore, C., et al. (1993). Otopalatodigital syndrome type II associated with omphalocele: Report of three cases. American Journal of Medical Genetics, 45, 481–487.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Otopalatodigital Spectrum Disorders. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_188-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_188-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation