Cleidocranial Dysplasia 1 (CLCD1)

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MedlinePlus Genetics: ⁴² Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the body. Delayed maturation of the skull (cranium) is also characteristic of this condition, including delayed closing of the growth lines where the bones of the skull meet (sutures) and larger than normal spaces (fontanelles) between the skull bones that are noticeable as "soft spots" on the heads of infants. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this disorder. Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures.Affected individuals are often shorter than other members of their family at the same age. Many also have short, tapered fingers and broad thumbs; flat feet; knock knees; short shoulder blades (scapulae); and an abnormal curvature of the spine (scoliosis). Typical facial features include a wide, short skull (brachycephaly); a prominent forehead; wide-set eyes (hypertelorism); a flat nose; and a small upper jaw.Individuals with cleidocranial dysplasia often have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture, at a relatively early age. Women with cleidocranial dysplasia have an increased risk of requiring a cesarean section when delivering a baby, due to a narrow pelvis preventing passage of the infant's head.Dental abnormalities are very common in cleidocranial dysplasia and can include delayed loss of the primary (baby) teeth; delayed appearance of the secondary (adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the gums.In addition to skeletal and dental abnormalities, people with cleidocranial dysplasia may have hearing loss and are prone to sinus and ear infections. Some young children with this condition are mildly delayed in the development of motor skills such as crawling and walking, but intelligence is unaffected.

MalaCards based summary: Cleidocranial Dysplasia 1, also known as cleidocranial dysplasia, is related to parietal foramina with cleidocranial dysplasia and trichodentoosseous syndrome. An important gene associated with Cleidocranial Dysplasia 1 is RUNX2 (RUNX Family Transcription Factor 2), and among its related pathways/superpathways are Gene expression (Transcription) and TGF-beta receptor signaling in skeletal dysplasias. Affiliated tissues include clavicle, skull and bone, and related phenotypes are frontal bossing and skeletal dysplasia

GARD: ¹⁹ Cleidocranial dysplasia (CCD) affects the development of the bones, skull, and teeth. Signs and symptoms include underdeveloped or absent collarbones (clavicles), dental abnormalities, and delayed closing of the spaces between the skull bones (fontanels). Other symptoms may include decreased bone density (osteopenia), hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. People with CCD may develop curvature of the spine (scoliosis), osteoporosis, and may be shorter than average. CCD occurs due to a RUNX2 gene that is not working correctly and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and genetic testings.

UniProtKB/Swiss-Prot: ⁷³ Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.

OMIM®: ⁵⁷ The main clinical features of cleidocranial dysplasia (CLCD) 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. (119600) (Updated 08-Dec-2022)

Orphanet: ⁵⁸ Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

Disease Ontology: ¹¹ An osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

Wikipedia: ⁷⁵ Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly... more...

Clinical features from OMIM®:

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