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Aplasia/Hypoplasia of the calvaria

MedGen UID:
1054280
Concept ID:
CN378018
Finding
HPO: HP:6000872

Definition

A developmental defect characterized by absence or underdevelopment of the calvaria. [from HPO]

Conditions with this feature

Cleidocranial dysostosis
MedGen UID:
3486
Concept ID:
C0008928
Disease or Syndrome
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities) to mild CCD to isolated dental anomalies without the skeletal features. Most individuals come to diagnosis because they have classic features. At birth, affected individuals typically have abnormally large, wide-open fontanelles that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include supernumerary teeth, eruption failure of the permanent teeth, and presence of the second permanent molar with the primary dentition. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper-airway obstruction. Intelligence is typically normal.

Recent clinical studies

Etiology

Buller J, Kreppel M, Maus V, Zirk M, Zöller JE
J Craniomaxillofac Surg 2019 Apr;47(4):611-615. Epub 2019 Jan 18 doi: 10.1016/j.jcms.2019.01.018. PMID: 30718214
Spear GS
Am J Med Genet A 2006 Nov 1;140(21):2341-8. doi: 10.1002/ajmg.a.31473. PMID: 17036309

Diagnosis

Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314
Spear GS
Am J Med Genet A 2006 Nov 1;140(21):2341-8. doi: 10.1002/ajmg.a.31473. PMID: 17036309

Therapy

Buller J, Kreppel M, Maus V, Zirk M, Zöller JE
J Craniomaxillofac Surg 2019 Apr;47(4):611-615. Epub 2019 Jan 18 doi: 10.1016/j.jcms.2019.01.018. PMID: 30718214

Prognosis

Buller J, Kreppel M, Maus V, Zirk M, Zöller JE
J Craniomaxillofac Surg 2019 Apr;47(4):611-615. Epub 2019 Jan 18 doi: 10.1016/j.jcms.2019.01.018. PMID: 30718214

Clinical prediction guides

Buller J, Kreppel M, Maus V, Zirk M, Zöller JE
J Craniomaxillofac Surg 2019 Apr;47(4):611-615. Epub 2019 Jan 18 doi: 10.1016/j.jcms.2019.01.018. PMID: 30718214

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