Osteoglophonic dysplasia
Last updated 6 May 2024
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Osteoglophonic dysplasia is a condition characterised by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed-out (-glophonic) areas that appear as lesions or holes on x-ray images. These lesions typically affect the long bones of the arms and legs.
Description
Osteoglophonic dysplasia is a condition characterised by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed-out (-glophonic) areas that appear as lesions or holes on x-ray images. These lesions typically affect the long bones of the arms and legs.
In people with osteoglophonic dysplasia, bones in the skull often fuse together too early (craniosynostosis). The craniosynostosis seen in people with this disorder may give the head a flat appearance or a "cloverleaf" shape, depending on which bones fuse first. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead, widely spaced eyes (hypertelorism) that are prominent (proptosis), low-set ears, a flattening of the bridge of the nose and the middle of the face (midface hypoplasia), a protruding jaw (prognathism), a high arch in the roof of the mouth (a high-arched palate), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva).
Most people with osteoglophonic dysplasia have hollowed lesions in the long bones. These lesions are likely non-ossifying fibromas, which are benign (noncancerous) bone tumours made up of fibrous tissue that does not harden into bone. The lesions appear early in life and gradually increase in size and number during childhood. Later in life, the lesions may get smaller or go away once the bones have stopped growing. Individuals with osteoglophonic dysplasia can also have short, bowed legs and arms. They also have flat feet; overlapping toes; and short, broad hands and fingers.
Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals can experience episodes of increased body temperature and excessive sweating.
Some people with osteoglophonic dysplasia develop pyloric stenosis, which is a narrowing of the opening from the stomach into the small intestines. Others can develop inguinal hernia, in which the contents of the abdomen causes a soft out-pouching through the lower abdominal wall.
The life expectancy of people with osteoglophonic dysplasia depends on the extent of the craniofacial abnormalities. People with abnormalities that obstruct the air passages and affect the mouth and teeth may have respiratory problems and difficulty eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in people with this disorder, but speech delays can occur.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+Inherited or new variant. More than one pattern can apply in different cases.
Related genes
Other names
Fairbank-Keats syndrome
FGFR1-related osteoglophonic dysplasia
OGD
Osteoglophonic dwarfism
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Further reading and references
- Osteoglophonic dysplasia; MedlinePlus, National Library of Medicine.
- Azouz EM, Kozlowski K. Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. Pediatr Radiol. 1997 Jan;27(1):75-8. doi: 10.1007/s002470050069.
- Beighton P, Cremin BJ, Kozlowski K. Osteoglophonic dwarfism. Pediatr Radiol. 1980 Sep;10(1):46-50. doi: 10.1007/BF01644343.
- Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Am J Med Genet A. 2006 Mar 1;140(5):537-9. doi: 10.1002/ajmg.a.31106. No abstract available.
- Holder J, Zinn D, Samin A. Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. Ultrasound Q. 2017 Mar;33(1):77-81. doi: 10.1097/RUQ.0000000000000238.
- Keats TE, Smith TH, Sweet DE. Craniofacial dysotosis with fibrous metaphyseal deffects. Am J Roentgenol Radium Ther Nucl Med. 1975 Jun;124(2):271-5. doi: 10.2214/ajr.124.2.271. No abstract available.
- Kelley RI, Borns PF, Nichols D, Zackai EH. Osteoglophonic dwarfism in two generations. J Med Genet. 1983 Dec;20(6):436-40. doi: 10.1136/jmg.20.6.436.
- Kuthiroly S, Yesodharan D, Ghosh A, White KE, Nampoothiri S. Osteoglophonic Dysplasia: Phenotypic and Radiological Clues. J Pediatr Genet. 2017 Dec;6(4):247-251. doi: 10.1055/s-0037-1602816. Epub 2017 May 5.
- Marzin P, Baujat G, Gensburger D, Huber C, Bole C, Panuel M, Finidori G, De la Dure M, Cormier-Daire V. Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions. Eur J Med Genet. 2020 Feb;63(2):103729. doi: 10.1016/j.ejmg.2019.103729. Epub 2019 Jul 15.
- Othman AA, Babcock HE, Ferreira CR. Osteoglophonic Dysplasia. 2024 Apr 18. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK602944/
- Santos H, Campos P, Alves R, Torrado A. Osteoglophonic dysplasia: a new case. Eur J Pediatr. 1988 Jun;147(5):547-9. doi: 10.1007/BF00441988.
- Shankar VN, Ajila V, Kumar G. Osteoglophonic dysplasia: a case report. J Oral Sci. 2010 Mar;52(1):167-71. doi: 10.2334/josnusd.52.167.
- Sklower Brooks S, Kassner G, Qazi Q, Keogh MJ, Gorlin RJ. Osteoglophonic dysplasia: review and further delineation of the syndrome. Am J Med Genet. 1996 Dec 11;66(2):154-62. doi: 10.1002/(SICI)1096-8628(19961211)66:23.0.CO;2-R.
- Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ. Osteoglophonic dysplasia: A 'common' mutation in a rare disease. Clin Genet. 2010 Aug;78(2):197-8. doi: 10.1111/j.1399-0004.2010.01382.x. Epub 2010 Mar 5. No abstract available.
- White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005 Feb;76(2):361-7. doi: 10.1086/427956. Epub 2004 Dec 28.
- Zou Y, Lin H, Chen W, Chang L, Cai S, Lu YG, Xu L. Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up. BMC Oral Health. 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6.
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