Cleidocranial dysplasia (cleidocranial dysostosis) is a generalised bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, dental abnormalities, typical craniofacial appearance and marked mobility of droopy shoulders. There can be significant intra-familial variation. It is generally inherited as an autosomal dominant condition with spontaneous mutations causing one third of cases. Autosomal recessive transmission has been reported in two families. Three cases with abnormalities of chromosome 8q22 and chromosome 6 have presented in other families. Prenatal diagnosis is reported only twice, in a high risk pregnancy and in the second, diagnosis in the fetus led to diagnosis in the mother.
The head is brachycephalic with increased biparietal diameter, frontal bossing, large fontanelles, wide-spaced sutures and multiple wormian bones. There is hypoplasia of the facial bones, a small saddle nose, broad mandible, and prognathism. Dental abnormalities include delayed dental eruption, dental impaction, supernumerary teeth and irregular tooth placement. The chest is narrow with mild rib shortening and a prominent downward slope. Thoracic cage deformity can cause respiratory distress in the newborn. There is partial or total aplasia of the clavicles, a small scapula and associated muscular defects that result in an abnormally low position of the shoulder. (nomograms exist to follow clavicular growth). The second and fifth metacarpals are relatively long, with short middle phalanges and tapering of the distal phalanges. There is absence or delayed ossification of the pubic bones with hypoplastic iliac wings. Progressive scoliosis can develop and there is a high incidence of spondylolysis of lumbar vertebrae.
In the CHILD syndrome there is ichthyosis, ipsilateral limb reduction anomalies, internal organ anomalies and unilateral clavicular hypoplasia. Crane-Heise syndrome is a lethal condition characterized by facial dysmorphism, micrognathia, cleft lip/palate, poorly mineralized calvarium and absent clavicles. The parietal defect-clavicular hypoplasia syndrome presents with macrocephaly, hypertelorism, microtia, parietal defect and distal clavicular hypoplasia. Pycnodysostosis is characterized by osteosclerosis, delayed suture and fontanelle closure, prominent nose, micrognathia, short limbs, fractures, dental abnormalities and hypoplasia of the acromial end of the clavicle. Scapuloiliac dysostosis features clavicular hypoplasia with extreme hypoplasia of the scapula and ilium. In the Yunis-Varon syndrome there is dolichocephaly, micrognathia, absent thumbs, wide sutures and hypoplasia or agenesis of the clavicles.
Wide-spaced sutures and large fontanelles
Clavicular aplasia or hypoplasia
Absent pubic bone ossification at term
Mild long bone shortening
Absent or short fibula (occasional)
- Cleidocranial dysplasia
- Melnick-Needles osteodysplasty
- Parietal foramina-clavicular hypoplasia
- Roberts phocomelia
- Thrombocytopenia-absent radius
- Hamner LH, Fabbri EL, Browne PC Prenatal diagnosis of cleidocranial dysostosis Obstet Gynecol 83:856-857
- Jensen BL Somatic development in cleidocranial dysplasia Am J Med Genet 35:69-74
- Sillence DO, Ritchie HE, Selby P Animal model: skeletal anomalies in mice with cleidocranial dysplasia Am J Med Genet 27:75-85
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