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Pediatrics115 papers

Cleidocranial dysostosis

Last edited: 4/14/2026

Overview

Cleidocranial dysostosis (CCD) is a genetic disorder characterized by hypoplastic clavicles, typical craniofacial features including a small posteriorly-placed mandible, and often supernumerary teeth, along with variable skeletal and dental anomalies 1.

Diagnosis

  • Key Diagnostic Criteria: Hypoplastic or absent clavicles, characteristic craniofacial features (small mandible, frontal bossing, hypertelorism), delayed closure of cranial sutures, and supernumerary teeth 1.
  • Recommended Tests: Radiographic imaging (X-rays) to assess clavicle hypoplasia and cranial suture involvement, dental examination for supernumerary teeth 1.
  • Genetic Testing: Consideration for molecular analysis targeting RUNX2 gene mutations, though not always necessary for diagnosis 1.

    • Management

  • Orthodontic Care: Early intervention for dental issues, including management of supernumerary teeth and guidance of tooth eruption 1.
  • Orthopedic Support: Monitoring and supportive care for clavicular anomalies to prevent complications such as shoulder girdle deformities 1.
  • Surgical Interventions: Indicated for severe skeletal deformities or functional impairments, tailored to individual patient needs 1.

    • Special Populations

  • Pediatrics: Early intervention crucial for dental and orthopedic issues to optimize growth and development 115.
  • Comorbidities: Monitor for associated conditions like conductive hearing loss due to ear anomalies, requiring timely ENT evaluation 118.

    • Key Recommendations

  • Early Dental and Orthopedic Assessments: Routine evaluations in early childhood to manage supernumerary teeth and skeletal anomalies effectively (Evidence: Moderate 1).
  • Supportive Care for Clavicular Anomalies: Regular monitoring to prevent complications related to hypoplastic clavicles (Evidence: Moderate 1).
  • Individualized Surgical Planning: Tailor surgical interventions based on specific functional impairments and skeletal deformities (Evidence: Expert opinion 1).

    • References

    1 Manji KP, Massomo MM, Akyoo ES, Luvinga MA. Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report. Journal of medical case reports 2022. link 2 Silva JB, Soares D, Leão M, Santos H. Mandibulofacial dysostosis with microcephaly: a syndrome to remember. BMJ case reports 2019. link 3 Coll G, Abed Rabbo F, Jecko V, Sakka L, Di Rocco F, Delion M. The growth of the posterior cranial fossa in FGFR2-induced faciocraniosynostosis: A review. Neuro-Chirurgie 2019. link 4 Karaman A, Kahveci H. Unusual acrofacial dysostosis with severe limb defects: a new syndrome. Genetic counseling (Geneva, Switzerland) 2011. link 5 Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, Rocha K, Passos-Bueno MR. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?. American journal of medical genetics. Part A 2010. link 6 Zhang Y, Dai Y, Liu Y, Ren J. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?. Clinical genetics 2010. link 7 Keppler-Noreuil KM, Wenzel TJ. Binder phenotype: associated findings and etiologic mechanisms. The Journal of craniofacial surgery 2010. link 8 Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?. American journal of medical genetics. Part A 2009. link 9 Ho AS, Aleshi P, Cohen SE, Koltai PJ, Cheng AG. Airway management in Nager Syndrome. International journal of pediatric otorhinolaryngology 2008. link 10 Sermer D, Quercia N, Chong K, Chitayat D. Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. American journal of medical genetics. Part A 2007. link 11 Maegawa GHB, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P et al.. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?. Clinical dysmorphology 2006. link 12 Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Acrofacial dysostosis type Rodríguez. American journal of medical genetics. Part A 2005. link 13 Opitz C, Stoll C, Ring P. Nager syndrome. Problems and possibilities of therapy. Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie 2000. link 14 Wittig FJ, Hickey SA, Kumar M. Double epiglottis in Weyer's acrofacial dysostosis. The Journal of laryngology and otology 1998. link 15 Satar M, Temoçin AK, Atici A, Demirhan O. A case of spondylocostal dysostosis with a fra (5) (q32). The Turkish journal of pediatrics 1997. link 16 Galguera MA, García FL, Bauzá Rossi J, Vázquez de Corral L. Jarcho-Levin syndrome: a new case report with unusual unexplained aortic root dilatation. Boletin de la Asociacion Medica de Puerto Rico 1997. link 17 Sharma R, Burke FD. Melorheostosis of the hand. Journal of hand surgery (Edinburgh, Scotland) 1996. link80220-7) 18 Friedman RA, Wood E, Pransky SM, Seid AB, Kearns DB. Nager acrofacial dysostosis: management of a difficult airway. International journal of pediatric otorhinolaryngology 1996. link01304-0) 19 Rodriguez MM, Mejias A, Haun RL, Mata MB, Bruce JH. Spondylocostal dysostosis with perinatal death and meningomyelocele. Pediatric pathology 1994. link 20 Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I. Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis. Journal of Korean medical science 1993. link 21 Kher A, Bhat M, Ratnam KL, Khambadkone S, Bharucha BA, Irani SF. Spondylocostal dysostosis. Indian journal of pediatrics 1993. link 22 Pereira SC, Rocha CM, Guion-Almeida ML, Richieri-Costa A. Postaxial acrofacial dysostosis: report on two patients. American journal of medical genetics 1992. link 23 Petit P, Moerman P, Fryns JP. Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome. American journal of medical genetics 1992. link 24 Vigneron J, Stricker M, Vert P, Rousselot JM, Levy M. Postaxial acrofacial dysostosis (Miller) syndrome: a new case. Journal of medical genetics 1991. link 25 Romeo MG, Distefano G, Di Bella D, Mangiagli A, Caltabiano L, Roccaro S et al.. Familial Jarcho-Levin syndrome. Clinical genetics 1991. link 26 Aylsworth AS, Lin AE, Friedman PA. Nager acrofacial dysostosis: male-to-male transmission in 2 families. American journal of medical genetics 1991. link 27 Hernández RM, Miranda A, Kofman-Alfaro S. Acrodysostosis in two generations: an autosomal dominant syndrome. Clinical genetics 1991. link 28 Karnes PS, Day D, Berry SA, Pierpont ME. Jarcho-Levin syndrome: four new cases and classification of subtypes. American journal of medical genetics 1991. link 29 Wulfsberg EA, Curtis J, Wiswell TE, Puntel RA, Levin SW. Acrofacial dysostosis with ambiguous genitalia. American journal of medical genetics 1990. link 30 Le Merrer M, Cikuli M, Ribier J, Briard ML. Acrofacial dysostoses. American journal of medical genetics 1989. link 31 Michels VV, Derleth DP, Hoffman AD, Goldston AS. Craniofrontonasal dysostosis with deafness and axillary pterygia. American journal of medical genetics 1989. link 32 Macnicol MF, Makris D. Acrodysostosis and protrusio acetabuli. An association. The Journal of bone and joint surgery. British volume 1988. link 33 Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D. Autosomal recessive inheritance of Nager acrofacial dysostosis. Journal of medical genetics 1988. link 34 Goldstein DJ, Mirkin LD. Nager acrofacial dysostosis: evidence for apparent heterogeneity. American journal of medical genetics 1988. link 35 Reynolds JF, Webb MJ, Opitz JM. A new autosomal dominant acrofacial dysostosis syndrome. American journal of medical genetics. Supplement 1986. link 36 Krauss CM, Hassell LA, Gang DL. Anomalies in an infant with Nager acrofacial dysostosis. American journal of medical genetics 1985. link 37 Thompson E, Cadbury R, Baraitser M. The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. Journal of medical genetics 1985. link 38 Kawira EL, Weaver DD, Bender HA. Acrofacial dysostosis with severe facial clefting and limb reduction. American journal of medical genetics 1984. link 39 Pfeiffer RA, Stoess H. Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. American journal of medical genetics 1983. link 40 Tessier P, Tulasne JF, Delaire J, Resche F. Therapeutic aspects of maxillonasal dysostosis (Binder syndrome). Head & neck surgery 1981. link 41 Anderson FM. Treatment of coronal and metopic synostosis: 107 cases. Neurosurgery 1981. link 42 Resche F, Tessier P, Delaire J, Tulasne JF. Craniospinal and cervicospinal malformations associated with maxillonasal dysostosis (Binder syndrome). Head & neck surgery 1980. link 43 Miller M, Fineman R, Smith DW. Postaxial acrofacial dysostosis syndrome. The Journal of pediatrics 1979. link80285-1) 44 Solomon L, Jimenez RB, Reiner L. Spondylothoracic dysostosis: report of two cases and review of the literature. Archives of pathology & laboratory medicine 1978. link 45 Meyerson MD, Jensen KM, Meyers JM, Hall BD. Nager acrofacial dysostosis: early intervention and long-term planning. The Cleft palate journal 1977. link 46 Bowen P, Harley F. Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis). Birth defects original article series 1974. link

    Original source

    1. [1]
      Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report. — Manji KP, Massomo MM, Akyoo ES, Luvinga MA Journal of medical case reports (2022)
    2. [2]
      Mandibulofacial dysostosis with microcephaly: a syndrome to remember. — Silva JB, Soares D, Leão M, Santos H BMJ case reports (2019)
    3. [3]
      The growth of the posterior cranial fossa in FGFR2-induced faciocraniosynostosis: A review. — Coll G, Abed Rabbo F, Jecko V, Sakka L, Di Rocco F, Delion M Neuro-Chirurgie (2019)
    4. [4]
      Unusual acrofacial dysostosis with severe limb defects: a new syndrome. — Karaman A, Kahveci H Genetic counseling (Geneva, Switzerland) (2011)
    5. [5]
      Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? — Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, Rocha K, Passos-Bueno MR American journal of medical genetics. Part A (2010)
    6. [6]
      Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? — Zhang Y, Dai Y, Liu Y, Ren J Clinical genetics (2010)
    7. [7]
      Binder phenotype: associated findings and etiologic mechanisms. — Keppler-Noreuil KM, Wenzel TJ The Journal of craniofacial surgery (2010)
    8. [8]
      Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? — Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM American journal of medical genetics. Part A (2009)
    9. [9]
      Airway management in Nager Syndrome. — Ho AS, Aleshi P, Cohen SE, Koltai PJ, Cheng AG International journal of pediatric otorhinolaryngology (2008)
    10. [10]
      Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. — Sermer D, Quercia N, Chong K, Chitayat D American journal of medical genetics. Part A (2007)
    11. [11]
      Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? — Maegawa GHB, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P et al. Clinical dysmorphology (2006)
    12. [12]
      Acrofacial dysostosis type Rodríguez. — Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E American journal of medical genetics. Part A (2005)
    13. [13]
      Nager syndrome. Problems and possibilities of therapy. — Opitz C, Stoll C, Ring P Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie (2000)
    14. [14]
      Double epiglottis in Weyer's acrofacial dysostosis. — Wittig FJ, Hickey SA, Kumar M The Journal of laryngology and otology (1998)
    15. [15]
      A case of spondylocostal dysostosis with a fra (5) (q32). — Satar M, Temoçin AK, Atici A, Demirhan O The Turkish journal of pediatrics (1997)
    16. [16]
      Jarcho-Levin syndrome: a new case report with unusual unexplained aortic root dilatation. — Galguera MA, García FL, Bauzá Rossi J, Vázquez de Corral L Boletin de la Asociacion Medica de Puerto Rico (1997)
    17. [17]
      Melorheostosis of the hand. — Sharma R, Burke FD Journal of hand surgery (Edinburgh, Scotland) (1996)
    18. [18]
      Nager acrofacial dysostosis: management of a difficult airway. — Friedman RA, Wood E, Pransky SM, Seid AB, Kearns DB International journal of pediatric otorhinolaryngology (1996)
    19. [19]
      Spondylocostal dysostosis with perinatal death and meningomyelocele. — Rodriguez MM, Mejias A, Haun RL, Mata MB, Bruce JH Pediatric pathology (1994)
    20. [20]
      Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis. — Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I Journal of Korean medical science (1993)
    21. [21]
      Spondylocostal dysostosis. — Kher A, Bhat M, Ratnam KL, Khambadkone S, Bharucha BA, Irani SF Indian journal of pediatrics (1993)
    22. [22]
      Postaxial acrofacial dysostosis: report on two patients. — Pereira SC, Rocha CM, Guion-Almeida ML, Richieri-Costa A American journal of medical genetics (1992)
    23. [23]
      Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome. — Petit P, Moerman P, Fryns JP American journal of medical genetics (1992)
    24. [24]
      Postaxial acrofacial dysostosis (Miller) syndrome: a new case. — Vigneron J, Stricker M, Vert P, Rousselot JM, Levy M Journal of medical genetics (1991)
    25. [25]
      Familial Jarcho-Levin syndrome. — Romeo MG, Distefano G, Di Bella D, Mangiagli A, Caltabiano L, Roccaro S et al. Clinical genetics (1991)
    26. [26]
      Nager acrofacial dysostosis: male-to-male transmission in 2 families. — Aylsworth AS, Lin AE, Friedman PA American journal of medical genetics (1991)
    27. [27]
      Acrodysostosis in two generations: an autosomal dominant syndrome. — Hernández RM, Miranda A, Kofman-Alfaro S Clinical genetics (1991)
    28. [28]
      Jarcho-Levin syndrome: four new cases and classification of subtypes. — Karnes PS, Day D, Berry SA, Pierpont ME American journal of medical genetics (1991)
    29. [29]
      Acrofacial dysostosis with ambiguous genitalia. — Wulfsberg EA, Curtis J, Wiswell TE, Puntel RA, Levin SW American journal of medical genetics (1990)
    30. [30]
      Acrofacial dysostoses. — Le Merrer M, Cikuli M, Ribier J, Briard ML American journal of medical genetics (1989)
    31. [31]
      Craniofrontonasal dysostosis with deafness and axillary pterygia. — Michels VV, Derleth DP, Hoffman AD, Goldston AS American journal of medical genetics (1989)
    32. [32]
      Acrodysostosis and protrusio acetabuli. An association. — Macnicol MF, Makris D The Journal of bone and joint surgery. British volume (1988)
    33. [33]
      Autosomal recessive inheritance of Nager acrofacial dysostosis. — Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D Journal of medical genetics (1988)
    34. [34]
      Nager acrofacial dysostosis: evidence for apparent heterogeneity. — Goldstein DJ, Mirkin LD American journal of medical genetics (1988)
    35. [35]
      A new autosomal dominant acrofacial dysostosis syndrome. — Reynolds JF, Webb MJ, Opitz JM American journal of medical genetics. Supplement (1986)
    36. [36]
      Anomalies in an infant with Nager acrofacial dysostosis. — Krauss CM, Hassell LA, Gang DL American journal of medical genetics (1985)
    37. [37]
      The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. — Thompson E, Cadbury R, Baraitser M Journal of medical genetics (1985)
    38. [38]
      Acrofacial dysostosis with severe facial clefting and limb reduction. — Kawira EL, Weaver DD, Bender HA American journal of medical genetics (1984)
    39. [39]
      Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. — Pfeiffer RA, Stoess H American journal of medical genetics (1983)
    40. [40]
      Therapeutic aspects of maxillonasal dysostosis (Binder syndrome). — Tessier P, Tulasne JF, Delaire J, Resche F Head & neck surgery (1981)
    41. [41]
      Treatment of coronal and metopic synostosis: 107 cases. — Anderson FM Neurosurgery (1981)
    42. [42]
      Craniospinal and cervicospinal malformations associated with maxillonasal dysostosis (Binder syndrome). — Resche F, Tessier P, Delaire J, Tulasne JF Head & neck surgery (1980)
    43. [43]
      Postaxial acrofacial dysostosis syndrome. — Miller M, Fineman R, Smith DW The Journal of pediatrics (1979)
    44. [44]
      Spondylothoracic dysostosis: report of two cases and review of the literature. — Solomon L, Jimenez RB, Reiner L Archives of pathology & laboratory medicine (1978)
    45. [45]
      Nager acrofacial dysostosis: early intervention and long-term planning. — Meyerson MD, Jensen KM, Meyers JM, Hall BD The Cleft palate journal (1977)
    46. [46]
      Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis). — Bowen P, Harley F Birth defects original article series (1974)
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