Cleidocranial Dysplasia

Alternative Names

  • CCD
  • Cleidocranial Dysostosis
  • CLCD
  • Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly
  • Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

119600

Mode of Inheritance

Autosomal dominant

Gene Map Locus

6p21.1

Description

Cleidocranial dysplasia (CCD) is a condition characterized by defects in membranous and endochronal ossification resulting in skeletal abnormalities, most notably, partly or completely missing collarbones (clavicles), retention of deciduous teeth, delayed closing of the fontanels, and a shorter than normal stature. Only 10% of affected patients show a total absence of both clavicles. In most other cases, there is only partial agenesis of the collarbone. The retention of deciduous teeth leads to the presence of multiple supernumerary teeth. Other features seen in the condition include underdeveloped bones and joints, bulging of the forehead, hypertelorism, brachycephaly, pseudoprognathism, high arched palate, short, tapered fingers and broad thumbs, short forearms, flat feet; knock knees, scoliosis of the spine, conductive deafness with frequent episodes of otitis media, and absence of nasal bones. Affected individuals have a normal intelligence and life span.

Cleidocranial dysplasia can be easily diagnosed based on the triad of symptoms of agenesis of the clavicles, multiple supernumerary teeth, and open sagital sutures and fontanels. In cases where the supernumerary teeth have not been reabsorbed even by adolescence, they may have to be removed to prevent crowding in the jaw. Frequent ear infections may also require monitoring and management.

Cleidocranial dysplasia is inherited as an autosomal dominant condition, and is believed to be due to defects in the RUNX2 gene. This gene codes for a transcription factor, which in turn activates several genes involved in osteoblastic differentiation. Defects in the functioning of this protein, therefore, cause significant defects in bone and cartilage development, resulting in cleidocranial dysplasia. Yet, about 40% of cases of cleidocranial dysplasia have been reported to be sporadic, without any genetic cause.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
119600.1United Arab EmiratesMaleNoYes Short stature; Delayed speech and langua...NM_001024630.4:c.568C>THeterozygousSaleh et al. 2021 de novo mutation

Other Reports

Oman

Suresh (2009) reported a consanguineous family from Oman with CCD. Affected individuals included the mother (38 years old) and four of her children (aged between 4 and 17 years). The mother presented with short stature, prognathism, aplsia of the lateral end of the clavicle, hypertelorism, and a high arched palate. Iliac bones were not flared and she had spina bifida and spondylosis L5. Her second son showed clavicular hypoplasia with bilateral pseudoarthrosis, a Trendlenburg gait, a bilateral coax with overgrowth of greater trochanters, and a mild thoracic scoliosis. The second affected son presented with facial asymmetry, squint, bilateral conductive deafness, frequent episodes of otitis media, and clavicular hypoplasia. The third affected child had an absent clavicle on the right and an absent lateral end on the left, a high arched palate, wide symphysis pubis, vertical iliac wings, and multiple decayed teeth. The youngest patient was the most severely affected. He was born prematurely and suffered from respiratory distress syndrome. He showed clavicular hypoplasia and also had recurrent urinary tract infections. CT scan showed that his right kidney was posterior to the bladder, indicating a crossed ectopic kidney. Although its size was small, it was functioning well. The patient recovered with appropriate antibiotic therapy. All the patients showed other common features, including wide anterior fontanel, frontal bossing, hypertelorism, low set ears, prominent raised coronal sutures, multiple wormian bones in the skull, supernumerary teeth, multiple retained deciduous teeth, and multiple unerupted teeth. All patients also had long second metacarpals with an accessory epiphysis at the base of the second and fifth metacarpal. All patients had normal intelligence.

Sudan

Abbas and Prabhu (1982) reported the case of a 19-year-old Sudanese female with cleidocranial dysplasia. Presenting signs and symptoms included supernumerary teeth, failure of tooth eruption, hypoplastic maxilla, and expressed clavicular sign.

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