Cleidocranial Dysplasia (Subscribe)

disorder of ossification/development of midline bones autosomal dominant, 33% sporadic skull cranial dysplasia Wormian bones basilar invagination clavicles aplasia / hypoplasia, usually lateral portion other skeletal abnormalities small, high scapula wide symphysis pubis acro-osteolysis

Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene. It has one or more of these features:- The collarbones are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest. The fontanelles of the skull are late in closing, or never close. Extra teeth. Permanent teeth not erupting. Bossing (= bulging) of the ...

CLEIDOCRANIAL DYSOSTOSIS; CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED this disorder can be caused by mutation in the transcription factor CBFA1 (RUNX2; 600211). Features include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.

Discussion: - autosomal dominant proportionate dwarfism that affects bones formed intramembranously (eg. facial bones, cranium, & clavicles); - dislocations of hips, knees, and the radial heads may occur; - clavicle: - most commlonly, absence of the central portion of the clavicle with rudimentary medial and lateral portions remaining; - may be confused w/ pseurdoarthrosis of the clavicle - coxa vara: - consider ...

Disease characteristics. Cleidocranial dysplasia (designated as CCD in this GeneReview) is a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. Manifestations may vary among individuals in the same family. The most prominent clinical findings are abnormally large, wide-open fontanels at birth that may remain open throughout life; mid-face hypoplasia; abnormal dentition, including delayed eruption of ...

"A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies. (From Dorland, 27th ed)" 3 synonyms or equivalents were found. Cleidocranial dysplasia aka/or Dysostosis, cleidocranial aka/or Scheuthauer-Marie-Sainton syndrome may cause or feature ...

Summary A congenital disorder of bone formation with clavicular hypoplasia or agenesis with a narrow thorax, allowing approximation the shoulders in front of the chest occurring with delayed ossification of the skull, excessively large fontanelles, and delayed closing of the sutures. The fontanelles may remain open until adulthood, but the sutures often close with interposition of wormian bones. Bosses of the frontal, parietal, and occipital regions give the skull a large globular shape with ...