Craniofacial Syndromes
- Crouzon Syndrome: A syndrome characterized by prominent eye protrusion and midface hypoplasia, resulting from premature closure of the skull sutures (craniosynostosis).
- Apert Syndrome: A condition characterized by craniosynostosis + syndactyly of the fingers and toes, and including facial and jaw anomalies.
- Pfeiffer Syndrome: Syndrome characterized by skull deformities, broad head, prominent forehead, and midface hypoplasia.
- Saethre–Chotzen Syndrome: Craniosynostosis is characterized by a low hairline, facial asymmetry, and ear anomalies.
Mandibular Dysplasias
- Hemifacial Microsomia: Developmental delay in one half of the face, especially the lower jaw and ear area.
- Goldenhar Syndrome: Hemifacial microsomia + eye and ear anomalies (dermoid cysts, ear deficiencies).
Maxillofacial Anomalies
- Treacher Collins Syndrome: Syndrome characterized by underdevelopment of the cheekbones and lower jaw, and eye and ear anomalies.
- Nager Syndrome: Similar to Treacher Collins, but with upper extremity anomalies (especially arms and hands).
Syndromes Associated with Clefts
- Pierre Robin Sequence: Characterized by the triad of micrognathia (small jaw), tongue retraction, and cleft palate.
- Van der Woude Syndrome: Syndrome associated with lip pits and cleft lip and palate.
- Stickler Syndrome: Cleft palate, joint laxity, myopia and facial skeletal anomalies.
Other Syndromic Anomalies
- Ellis–van Creveld Syndrome: Characterized by short stature, polydactyly (extra fingers), dental anomalies, and cleft palate.
- Marfan Syndrome: Connective tissue disease; long face, high palate and narrow jaw are common.
- Down Syndrome: Mental developmental delay with small mouth, macroglossia and jaw anomalies.
Congenital Anomalies
- Cleft Lip: Congenital lip union defects.
- Cleft Palate: Congenital palate closure defects.
- Jaw Hypoplasias: Inadequate development of the upper or lower jaw.
- Jaw Macrognathia/Micrognathia: The jaw is larger or smaller than normal.
Syndromes and Maxillofacial Anomalies Frequently Asked Questions (FAQ)
1. What are maxillofacial syndromes?
These are disorders that occur in the development of the face and jaw due to congenital or genetic reasons.
2. How common are maxillofacial anomalies?
They are rare diseases, but they can cause serious aesthetic and functional problems.
3. Do these syndromes only cause aesthetic problems?
No, breathing, speech, feeding and hearing problems are also common.
4. Are maxillofacial anomalies hereditary?
Most are genetically transmitted, some are related to environmental factors.
5. Can these anomalies be detected before birth?
Yes, some can be detected through ultrasound and genetic testing.
6. What is Crouzon syndrome?
It is a syndrome that causes the upper jaw to recede and the eyes to protrude due to the premature closure of the skull bones.
7. What is the most common problem in Crouzon syndrome?
Small upper jaw and difficulty breathing.
8. Does Crouzon syndrome affect vision?
Yes, because the eyes are protruding forward, vision may be impaired.
9. What is Apert syndrome?
It is a syndrome characterized by premature closure of the skull and fused fingers.
10. What does the face look like in Apert syndrome?
The upper jaw is small, and the eyes may be wide apart and prominent.
11. What is Pfeiffer syndrome?
It is a syndrome characterized by skull anomalies and deformities in the fingers.
12. What is Saethre–Chotzen syndrome?
It is a syndrome characterized by skull deformity, low hairline, and ear anomalies.
13. Are there any respiratory problems in these syndromes?
Yes, it is common due to narrowness in the upper jaw and nasal cavity.
14. Are speech problems common in these syndromes?
Yes, speech is affected when the palate and jaw are underdeveloped.
15. Is surgical treatment necessary for craniofacial syndromes?
Yes, more than one surgical intervention may be required during the growth period.
16. What is hemifacial microsomia?
It is the underdevelopment of one side of the face compared to the other.
17. Which structures does this affect?
Jaw bone, ear and facial muscles.
18. Is hemifacial microsomia unilateral?
Mostly yes.
19. What is Goldenhar syndrome?
It is a syndrome characterized by anomalies in the jaw, ear and eye.
20. Is there hearing loss in Goldenhar syndrome?
Yes, it is common due to ear anomalies.
21. What is Treacher Collins syndrome?
It is a genetic syndrome in which the cheekbones and lower jaw are underdeveloped.
22. What is the facial appearance in this syndrome?
The lower jaw may be small, cheekbones may be underdeveloped, and there may be problems with the eyelids.
23. Is hearing affected in Treacher Collins syndrome?
Yes, due to ear anomalies.
24. What is Nager syndrome?
It is a syndrome characterized by small lower jaw and arm anomalies.
25. Do these syndromes affect speech?
Yes, especially if the chin is small.
26. What is the Pierre Robin sequence?
It is the combination of a small jaw, a backward shift of the tongue, and a cleft palate.
27. What is the most serious problem in Pierre Robin?
Shortness of breath.
28. Is feeding difficult at Pierre Robin?
Yes, due to difficulty swallowing.
29. What is Van der Woude syndrome?
It is a syndrome characterized by cleft lip/palate and small pits on the lip.
30. What is Stickler syndrome?
It is a syndrome characterized by cleft palate, eye disorders, and joint problems.
31. What is Ellis–van Creveld syndrome?
Short stature is a syndrome that causes many dental anomalies.
32. Does Marfan syndrome affect the jaw?
Yes, long face, narrow palate and crowded teeth are seen.
33. What is the jaw structure like in Down syndrome?
There is a small lower jaw and a large tongue.
34. Is orthodontics necessary in Down syndrome?
Mostly yes.
35. Is tooth development different in Down syndrome?
Yes, teeth come in late and irregularly.
36. What is jaw hypoplasia?
It is the development of the jaw that is smaller than normal.
37. What is jaw macrognathia?
It is the excessive growth of the jaw.
38. What is micrognathia?
It means small chin.
39. Are these anomalies congenital?
Generally yes.
40. Do jaw anomalies affect function?
Yes, chewing and speaking become difficult.
41. How are these syndromes diagnosed?
By clinical examination, imaging and genetic testing.
42. Is prenatal diagnosis possible?
In some syndromes, yes, with ultrasound.
43. What methods are used in imaging?
CT, MRI, cephalometry.
44. Is genetic counseling necessary?
Yes, it is important for families.
45. If it runs in the family, is there a high risk of recurrence?
Evet, bazı sendromlar %50 ihtimalle geçer.
46. When does treatment begin?
Follow-up is required from infancy.
47. Is the treatment done all at once?
No, gradual surgery and orthodontic procedures are required.
48. Is orthodontics always necessary?
Yes, in almost all syndromes.
49. At what age is surgery performed?
According to the child's developmental stage.
50. Can deterioration occur again after surgery?
Yes, because growth continues.
51. Do jaw anomalies affect breathing?
Yes, due to the narrow upper jaw and small lower jaw.
52. Is sleep apnea seen in these syndromes?
Yes, very often.
53. How to solve breathing problems?
With surgical and supportive devices.
54. Do jaw anomalies make feeding difficult?
Yes.
55. How to feed babies with cleft palate?
With special baby bottles.
56. Do jaw anomalies affect speech?
Yes.
57. Does cleft palate cause speech disorders?
Yes, nasal speech is possible.
58. Is hearing loss common in these patients?
Yes, especially Treacher Collins and Goldenhar.
59. Are hearing aids necessary?
Most of the time yes.
60. Is speech therapy helpful?
Yes, it is very important.
61. Do these syndromes affect self-confidence?
Yes, due to aesthetic issues.
62. Is psychological support necessary?
Yes.
63. Is family support important?
It is very important.
64. Will school life be affected?
Yes, there may be problems with social adaptation.
65. Does early treatment increase self-confidence?
Yes.
66. Which branches are involved in treatment?
Jaw surgery, plastic surgery, orthodontics, ENT, genetics, pediatrics.
67. Why is a multidisciplinary approach important?
Because it cannot be solved by a single doctor.
68. How long do these treatments last?
It continues from childhood to adulthood.
69. How many times do patients undergo surgery?
It varies depending on the syndrome and may be necessary several times.
70. How long does tracking take?
Regular check-ups are required throughout life.
71. Can these patients live normal lives?
Yes, with treatment.
72. What happens if not treated?
There is serious aesthetic and functional loss.
73. Can these patients get married?
Yes.
74. Can genetic transmission occur to children?
It could be.
75. Is this why genetic counseling is important?
Yes.
76. Can jaw anomalies be corrected with orthodontic appliances?
Partially.
77. Can implants be used for jaw anomalies?
Yes, in adulthood.
78. Can cleft lip and palate be completely healed?
Yes, with surgery.
79. Can facial aesthetics be corrected in cases of jaw anomalies?
Yes.
80. Is the function fully regained?
To a large extent.
81. Is treatment difficult in children?
No, it is easy if you start early.
82. At what age is surgery performed on children?
It varies depending on the syndrome.
83. Do children need psychological support?
Yes.
84. Is tooth development affected in children?
Yes, often.
85. Is speech therapy necessary for children?
Yes.
86. Is treatment more difficult in adults?
Yes, because bone development is complete.
87. Is orthognathic surgery performed on adults?
Yes.
88. Can cosmetic correction be performed on adults?
Yes.
89. Is dental treatment easy for adults?
No, special planning is required.
90. Can implants be used in adults?
Yes.
91. Are maxillofacial syndromes life-threatening if left untreated?
Yes, especially with respiratory problems.
92. Is there any aesthetic improvement after the treatment?
Yes.
93. Will function improve after treatment?
Yes.
94. Are these syndromes permanent?
Yes, because it is genetic, but it can be controlled with treatment.
95. Does the quality of life improve after treatment?
Definitely.
96. Why is early diagnosis important in these syndromes?
Because if it is corrected during the growth period, it provides permanent benefits.
97. What should families do in these syndromes?
Children should be checked regularly for early diagnosis.
98. Which physician should monitor these syndromes?
Multidisciplinary team, including a maxillofacial surgeon.
99. Is it possible to get treatment for these syndromes in Türkiye?
Yes, it can be done in advanced centers.
100. Can maxillofacial syndromes be completely cured?
Genetically, it does not disappear completely, but function and aesthetics can be restored to normal levels with surgery and orthodontics.
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