Cleidocranial Dysplasia
Core Binding Factor Alpha 1 Subunit
Tooth, Supernumerary
Tooth, Unerupted
Clavicle
Coxa Vara
Tooth, Impacted
Chromosomes, Human, Pair 6
Cleidocranial dysplasia: clinical and molecular genetics. (1/58)
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 gene that presumably lead to synthesis of an inactive gene product were identified in patients with CCD. The function of CBFA1 during skeletal development was further elucidated by the generation of mutated mice in which the Cbfa1 gene locus was targeted. Loss of one Cbfa1 allele (+/-) leads to a phenotype very similar to human CCD, featuring hypoplasia of the clavicles and patent fontanelles. Loss of both alleles (-/-) leads to a complete absence of bone owing to a lack of osteoblast differentiation. These studies show that haploinsufficiency of CBFA1 causes the CCD phenotype. CBFA1 controls differentiation of precursor cells into osteoblasts and is thus essential for membranous as well as endochondral bone formation. (+info)Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. (2/58)
Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. In vitro green fluorescent protein fusion studies show that R225 mutations interfere with nuclear accumulation of CBFA1 protein. There is no phenotypic difference between patients with deletions or frameshifts and those with other intragenic mutations, suggesting that CCD is generally caused by haploinsufficiency. However, we were able to extend the CCD phenotypic spectrum. A missense mutation identified in one family with supernumerary teeth and a radiologically normal skeleton indicates that mutations in CBFA1 can be associated exclusively with a dental phenotype. In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development. (+info)CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. (3/58)
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor CBFA1. To correlate CBFA1 mutations in different functional domains with the CCD clinical spectrum, we studied 26 independent cases of CCD and a total of 16 new mutations were identified in 17 families. The majority of mutations were de novo missense mutations that affected conserved residues in the runt domain and completely abolished both DNA binding and transactivation of a reporter gene. These, and mutations which result in premature termination in the runt domain, produced a classic CCD phenotype by abolishing transactivation of the mutant protein with consequent haploinsufficiency. We further identified three putative hypomorphic mutations (R391X, T200A and 90insC) which result in a clinical spectrum including classic and mild CCD, as well as an isolated dental phenotype characterized by delayed eruption of permanent teeth. Functional studies show that two of the three mutations were hypomorphic in nature and two were associated with significant intrafamilial variable expressivity, including isolated dental anomalies without the skeletal features of CCD. Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies. (+info)The developmental control of osteoblast-specific gene expression: role of specific transcription factors and the extracellular matrix environment. (4/58)
Bone formation is a carefully controlled developmental process involving morphogen-mediated patterning signals that define areas of initial mesenchyme condensation followed by induction of cell-specific differentiation programs to produce chondrocytes and osteoblasts. Positional information is conveyed via gradients of molecules, such as Sonic Hedgehog that are released from cells within a particular morphogenic field together with region-specific patterns of hox gene expression. These, in turn, regulate the localized production of bone morphogenetic proteins and related molecules which initiate chondrocyte- and osteoblast-specific differentiation programs. Differentiation requires the initial commitment of mesenchymal stem cells to a given lineage, followed by induction of tissue-specific patterns of gene expression. Considerable information about the control of osteoblast-specific gene expression has come from analysis of the promoter regions of genes encoding proteins like osteocalcin that are selectively expressed in bone. Both general and tissue-specific transcription factors control this promoter. Osf2/Cbfa1, the first osteoblast-specific transcription factor to be identified, is expressed early in the osteoblast lineage and interacts with specific DNA sequences in the osteocalcin promoter essential for its selective expression in osteoblasts. The OSF2/CBFA1 gene is necessary for the development of mineralized tissues, and its mutation causes the human disease, cleidocranial dysplasia. Committed osteoprogenitor cells already expressing Osf2/Cbfa1 must synthesize a collagenous ECM before they will differentiate. A cell:ECM interaction mediated by integrin-type cell-surface receptors is essential for the induction of osteocalcin and other osteoblast-related proteins. This interaction stimulates the binding of Osf2/Cbfa1 to the osteocalcin promoter through an as-yet-undefined mechanism. (+info)Early prenatal ultrasound diagnosis of cleidocranial dysplasia. (5/58)
A woman was referred in the first trimester of her third pregnancy because of a family history of cleidocranial dysplasia. An ultrasound examination at 14 weeks 4 days revealed a fetus with appropriate biometric measurements. However, the clavicles were noted to be hypoplastic and the cranium appeared less well ossified than expected for gestational age, suggesting the diagnosis of cleidocranial dysplasia. On subsequent examination at 21 weeks, the findings were essentially unchanged. Induced vaginal delivery owing to decreased amniotic fluid volume occurred at 37 weeks, and a female weighing 3200 g was delivered. The infant had clinical and X-ray signs of cleidocranial dysplasia. (+info)The 'chef's hat' appearance of the femoral head in cleidocranial dysplasia. (6/58)
Cleidocranial dysplasia (CCD) is inherited as an autosomal dominant disorder characterised by failure of membranous ossification. The condition is due to a mutation of the cbfa1 gene on chromosome 6 which has a role in the development of osteoblasts from the mesenchymal cells. In their growing years, these patients have an unusual shape of the femoral head reminiscent of a 'chef's hat'. In order to confirm the consistency of this sign, we have reviewed the radiographs of 28 patients with CCD. All except three had this appearance. The sign was also seen in patients with coxa vara associated with a variety of other conditions. The chef's hat sign may occur secondary to the particular mechanical environment created by coxa vara as well as abnormal cellular function in patients with CCD. Although coxa vara has some influence on the shape of the femoral head, it is not entirely responsible for its morphology since it was present in only six of the 28 patients with CCD. (+info)A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia. (7/58)
Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1). To understand the mechanism underlying the pathogenesis of CCD, we studied a novel mutant of RUNX2, CCDalphaA376, originally identified in a CCD patient. The nonsense mutation, which resulted in a truncated RUNX2 protein, severely impaired RUNX2 transactivation activity. We show that signal transducers of transforming growth factor beta superfamily receptors, Smads, interact with RUNX2 in vivo and in vitro and enhance the transactivation ability of this factor. The truncated RUNX2 protein failed to interact with and respond to Smads and was unable to induce the osteoblast-like phenotype in C2C12 myoblasts on stimulation by bone morphogenetic protein. Therefore, the pathogenesis of CCD may be related to the impaired Smad signaling of transforming growth factor beta/bone morphogenetic protein pathways that target the activity of RUNX2 during bone formation. (+info)Cbfa1: a molecular switch in osteoblast biology. (8/58)
During the past 4 years, our molecular understanding of osteoblast biology has made rapid progress due to the characterization of the function of one molecule, Cbfa1. This member of the runt/Cbfa family of transcription factors was first identified as the nuclear protein binding to an osteoblast-specific cis-acting element activating the expression of Osteocalcin, the most osteoblast-specific gene. Cbfa1 was then shown to regulate the expression of all the major genes expressed by osteoblasts. Consistent with this ability, genetic experiments identified Cbfa1 as a key regulator of osteoblast differentiation in vivo. Indeed, analysis of Cbfa1-deficient mice revealed that osteoblast differentiation is arrested in absence of Cbfa1, demonstrating both that it is required for this process and that no parallel pathway can overcome its absence. The importance of Cbfa1 in controlling osteoblast differentiation was further emphasized by the identification of Cbfa1 haploinsufficiency as the cause of cleidocranial dysplasia in humans and mice, a syndrome characterized by generalized bone defects. Lastly, Cbfa1 was shown to have a role beyond development and differentiation, regulating the rate of bone matrix deposition by differentiated osteoblasts. Thus, Cbfa1 is a critical gene not only for osteoblast differentiation but also for osteoblast function. These aspects, as well as the more recent progresses in understanding Cbfa1 biology, are the focuses of this review. (+info)Cleidocranial dysplasia is a genetic skeletal disorder that affects the development of bones and teeth. The condition is characterized by the underdevelopment or absence of the collarbones (clavicles), which can result in shoulder joints that are abnormally close together. This may allow the person to bring their shoulders around to touch or even overlap in front of their body.
People with cleidocranial dysplasia also often have a delayed closure of the fontanels (soft spots) on the skull, as well as an abnormal shape and size of the head. The facial bones may be underdeveloped, leading to a sunken appearance in the middle of the face and a prominent forehead. Dental abnormalities are also common, such as missing or delayed eruption of teeth, extra teeth, and misaligned teeth.
Cleidocranial dysplasia is caused by mutations in the CBFA1/RUNX2 gene and is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one of their parents is affected. However, many cases result from new mutations in the gene and occur in people with no family history of the disorder. Treatment typically involves surgical procedures to correct skeletal abnormalities and dental issues, as well as orthodontic treatment to align teeth.
Core Binding Factor Alpha 1 Subunit, also known as CBF-A1 or RUNX1, is a protein that plays a crucial role in hematopoiesis, which is the process of blood cell development. It is a member of the core binding factor (CBF) complex, which regulates gene transcription and is essential for the differentiation and maturation of hematopoietic stem cells into mature blood cells.
The CBF complex consists of three subunits: CBF-A, CBF-B, and a histone deacetylase (HDAC). The CBF-A subunit can have several isoforms, including CBF-A1, which is encoded by the RUNX1 gene. Mutations in the RUNX1 gene have been associated with various hematological disorders, such as acute myeloid leukemia (AML), familial platelet disorder with propensity to develop AML, and thrombocytopenia with absent radii syndrome.
CBF-A1/RUNX1 functions as a transcription factor that binds to DNA at specific sequences called core binding factors, thereby regulating the expression of target genes involved in hematopoiesis. Proper regulation of these genes is essential for normal blood cell development and homeostasis.
A supernumerary tooth, also known as hyperdontia, refers to an additional tooth or teeth that grow beyond the regular number of teeth in the dental arch. These extra teeth can erupt in various locations of the dental arch and may occur in any of the tooth types, but they are most commonly seen as extra premolars or molars, and less frequently as incisors or canines. Supernumerary teeth may be asymptomatic or may cause complications such as crowding, displacement, or impaction of adjacent teeth, and therefore, they often require dental treatment.
A tooth is classified as "unerupted" when it has not yet penetrated through the gums and entered the oral cavity. This can apply to both primary (baby) teeth and permanent (adult) teeth. The reasons for a tooth's failure to erupt can vary, including crowding of teeth, lack of sufficient space, or anatomical barriers such as bone or soft tissue. In some cases, unerupted teeth may need to be monitored or treated, depending on the specific situation and any symptoms experienced by the individual.
The clavicle, also known as the collarbone, is a long, slender bone that lies horizontally between the breastbone (sternum) and the shoulder blade (scapula). It is part of the shoulder girdle and plays a crucial role in supporting the upper limb. The clavicle has two ends: the medial end, which articulates with the sternum, and the lateral end, which articulates with the acromion process of the scapula. It is a common site of fracture due to its superficial location and susceptibility to direct trauma.
Jaw abnormalities, also known as maxillofacial abnormalities, refer to any structural or functional deviations from the normal anatomy and physiology of the jaw bones (mandible and maxilla) and the temporomandibular joint (TMJ). These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as trauma, infection, tumors, or degenerative diseases.
Examples of jaw abnormalities include:
1. Micrognathia: a condition where the lower jaw is underdeveloped and appears recessed or small.
2. Prognathism: a condition where the lower jaw protrudes forward beyond the normal position.
3. Maxillary hypoplasia/aplasia: a condition where the upper jaw is underdeveloped or absent.
4. Mandibular hypoplasia/aplasia: a condition where the lower jaw is underdeveloped or absent.
5. Condylar hyperplasia: a condition where one or both of the condyles (the rounded ends of the mandible that articulate with the skull) continue to grow abnormally, leading to an asymmetrical jaw and facial deformity.
6. TMJ disorders: conditions affecting the temporomandibular joint, causing pain, stiffness, and limited movement.
7. Jaw tumors or cysts: abnormal growths that can affect the function and structure of the jaw bones.
Jaw abnormalities can cause various problems, including difficulty with chewing, speaking, breathing, and swallowing, as well as aesthetic concerns. Treatment options may include orthodontic treatment, surgery, or a combination of both, depending on the severity and nature of the abnormality.
Coxa vara is a medical condition that affects the hip joint. It is characterized by an abnormal decrease in the angle between the neck and head of the femur (thigh bone) and the shaft of the femur. This results in the femoral head being positioned more vertically than normal, which can lead to impingement and degenerative changes in the hip joint.
Coxa vara is often congenital, meaning that it is present at birth, but it can also be acquired due to injury, infection, or other medical conditions such as rickets or slipped capital femoral epiphysis. Symptoms of coxa vara may include pain in the hip, limping, and decreased range of motion in the affected joint. Treatment for coxa vara typically involves surgery to realign the bones and prevent further degeneration of the hip joint.
An impacted tooth is a condition where a tooth fails to erupt into the oral cavity within its expected time frame, resulting in its partial or complete entrapment within the jawbone or soft tissues. This commonly occurs with wisdom teeth (third molars) but can affect any tooth. Impacted teeth may cause problems such as infection, decay of adjacent teeth, gum disease, or cyst formation, and they may require surgical removal.
Cranial sutures are the fibrous joints that connect and hold together the bones of the skull (cranium) in humans and other animals. These sutures provide flexibility for the skull during childbirth and growth, allowing the skull to expand as the brain grows in size, especially during infancy and early childhood.
There are several cranial sutures in the human skull, including:
1. The sagittal suture, which runs along the midline of the skull, connecting the two parietal bones.
2. The coronal suture, which connects the frontal bone to the two parietal bones.
3. The lambdoid suture, which connects the occipital bone to the two parietal bones.
4. The squamosal suture, which connects the temporal bone to the parietal bone.
5. The frontosphenoidal and sphenoethmoidal sutures, which connect the frontal bone, sphenoid bone, and ethmoid bone in the anterior cranial fossa.
These sutures are typically made up of a specialized type of connective tissue called Sharpey's fibers, which interdigitate with each other to form a strong yet flexible joint. Over time, as the skull bones fully fuse together, these sutures become less prominent and eventually ossify (turn into bone). In some cases, abnormalities in cranial suture development or fusion can lead to medical conditions such as craniosynostosis.
Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.
Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.
Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.
Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.
Tooth eruption is the process by which a tooth emerges from the gums and becomes visible in the oral cavity. It is a normal part of dental development that occurs in a predictable sequence and timeframe. Primary or deciduous teeth, also known as baby teeth, begin to erupt around 6 months of age and continue to emerge until approximately 2-3 years of age. Permanent or adult teeth start to erupt around 6 years of age and can continue to emerge until the early twenties.
The process of tooth eruption involves several stages, including the formation of the tooth within the jawbone, the movement of the tooth through the bone and surrounding tissues, and the final emergence of the tooth into the mouth. Proper tooth eruption is essential for normal oral function, including chewing, speaking, and smiling. Any abnormalities in the tooth eruption process, such as delayed or premature eruption, can indicate underlying dental or medical conditions that require further evaluation and treatment.
Cleidocranial dysplasia: MedlinePlus Genetics
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Dysostosis3
- Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. (wikipedia.org)
- Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have. (wikipedia.org)
- Cleidocranial Dysplasia or CCD is also referred to as Marie-Sainton disease or Mutational Dysostosis. (oralcareindia.com)
Genetic5
- Genetic testing can help the diagnosis of cleidocranial dysplasia but may not be necessary. (wustl.edu)
- Gaten was born with an exceptionally rare genetic condition called cleidocranial dysplasia , which impacts bone growth. (hellogiggles.com)
- Yunis-Varon Syndrome (YVS), also known as cleidocranial dysplasia, is a rare genetic disorder characterized by skeletal and ectodermal abnormalities. (expresshealthcaremgmt.com)
- At age 2, John underwent advanced genetic testing that led to the diagnosis of cleidocranial dysplasia. (michiganmedicine.org)
- Gaten was born with a rare genetic condition called cleidocranial dysplasia (CCD), and his family has been immensely supportive of his journey in both his acting career and raising awareness for the condition. (25magazine.com)
Ectodermal dysplasia1
- Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia]. (bvsalud.org)
Osteogenesis imperfecta1
- Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. (wikipedia.org)
Bone5
- Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures. (medlineplus.gov)
- A cleidocranial dysplasia (CCD) is a rare autossomal dominant skeletal disease (1:1.000.000) that affects generally clavicular and cranial bones, caused by a defect in the CBFA1 gene, that regulates differentiation of osteoblasts and appropriate bone formation. (bvsalud.org)
- Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of heritable disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. (medscape.com)
- During the 1950s and 1970s, many new bone dysplasias were identified based on clinical manifestations, radiographic findings, inheritance patterns, and morphology of the growth plate. (medscape.com)
- Fibrous dysplasia (FD) of the bone is a peculiar condition that affects either all bones or a single bone in the body. (oralcareindia.com)
Mutations3
- Cleidocranial dysplasia is usually caused by mutations in the RUNX2 gene. (medlineplus.gov)
- The RUNX2 gene mutations that cause cleidocranial dysplasia reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. (medlineplus.gov)
- Although runt-related transcription factor 2 (RUNX2) has been considered a determinant of cleidocranial dysplasia (CCD), some CCD patients were free of RUNX2 mutations. (biomedcentral.com)
RUNX23
- This shortage of functional RUNX2 protein interferes with the normal development of bones, cartilage, and teeth, resulting in the signs and symptoms of cleidocranial dysplasia. (medlineplus.gov)
- In about 30 percent of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. (medlineplus.gov)
- Meanwhile, the dysregulation and alteration of RUNX2 expression or activity may result in arteriosclerosis, skeletal dysplasia (e.g., cleidocranial dysplasia) and tumorigenesis ( 4 , 12 - 14 ). (spandidos-publications.com)
Fibrous1
- Fibrous dysplasia. (healthline.com)
Clinical1
- Clinical and molecular study in a family with cleidocranial dysplasia]. (bvsalud.org)
Clavicle1
- And this is different than pseudoarthrosis of the clavicle - a condition on only one side (vs both sides with cleidocranial dysplasia ) and one that may benefit from surgery. (wustl.edu)
Syndrome2
- Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
- Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
Absent1
- Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). (medlineplus.gov)
Affects2
- Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. (medlineplus.gov)
- So when the 6-year-old learned that an actor on the popular Netflix series "Stranger Things" also has cleidocranial dysplasia , a condition that affects one in 1 million people, he was inspired by his story. (michiganmedicine.org)
Symptoms1
- Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. (medlineplus.gov)
Teeth1
- The prevalence of supernumerary teeth varies oscila entre el 0,3 y el 3,8%.1 Es clasificado como una ano- from 0.3 to 3.8%.1 It is defined as a number malía de número, caracterizada por la presencia de una o abnormality characterized by the excess of any más piezas dentarias en exceso con respecto a la cantidad tooth. (bvsalud.org)
Occurs2
- Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide. (medlineplus.gov)
- Cleidocranial dysplasia is a rare disease and occurs in almost one child per I million children. (healthcaretip.com)
Condition3
- Cleidocranial dysplasia is a rare birth condition most notable for the lack of collarbones (or small collarbones- clavicles ). (wustl.edu)
- As Gaten grew up in Little Egg Harbor Township, his parents continuously supported him in overcoming the challenges he faced due to his medical condition, cleidocranial dysplasia (CCD). (25magazine.com)
- The actress, along with her mother and sister, was born with a unique condition called cleidocranial dysplasia. (cafe-madrid.com)
People2
- This graph shows the total number of publications written about "Cleidocranial Dysplasia" by people in this website by year, and whether "Cleidocranial Dysplasia" was a major or minor topic of these publications. (jefferson.edu)
- Below are the most recent publications written about "Cleidocranial Dysplasia" by people in Profiles. (jefferson.edu)
Treatment1
- In part 1 of this short series on the treatment of cleidocranial dysplasia (CCD), which was presented in the September 2013 Bulletin #25 on this website, early orthopedic treatment for the protraction of the maxilla, with the use of a face mask, was discussed and its place in the timing of treatment defined. (dr-adrianbecker.com)
Tissue1
- These grades are histopathologic interpretations of the degree of cellular dysplasia present in cancerous tissue. (experts.com)
Medical1
- Cleidocranial Dysplasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
Case1
- The purpose of thid study is describe a case of cleidocranial dysplasia. (bvsalud.org)
Short1
- Note short-limbed dysplasia, relative macrocephaly, and short neck. (medscape.com)
Baby1
- 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. (medlineplus.gov)
Matarazzo6
- Stranger Things star Gaten Matarazzo speaks out about his experience living with cleidocranial dysplasia (CCD) - a rare genetic condition that affects the growth of collarbones and teeth. (personalhealthnews.ca)
- Stranger Things' star Gaten Matarazzo opened up on Sept. 12 about living with cleidocranial dysplasia, a rare genetic order that affects the bones and teeth, and how he's been a role model for young fans. (hollywoodlife.com)
- In real life 15-year-old Gaten Matarazzo, who plays Dustin, is inspiring people as one of the few people on television who has cleidocranial dysplasia . (inverse.com)
- Gaten Matarazzo has cleidocranial dysplasia (CDD), a rare condition that he has openly discussed on social media. (netflixdeed.com)
- Yes, Gaten Matarazzo has cleidocranial dysplasia, a hereditary condition that impairs the formation of all bones, particularly his teeth and collarbones. (netflixdeed.com)
- Like Dustin, Matarazzo has cleidocranial dysplasia, a genetic condition that affects the development of skull bones and teeth. (history-biography.com)
Skeletal dysplasia10
- 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 other skeletal features. (nih.gov)
- A complete and accurate family history is essential for evaluation of the nature and inheritance pattern of skeletal dysplasia. (medscape.com)
- Histories (including spontaneous abortions or stillbirths), medical records, photographs, and radiographs of affected individuals should be carefully studied for clues to the nature of skeletal dysplasia. (medscape.com)
- Maternal hydramnios is probably the most significant event associated with fetal skeletal dysplasia during pregnancy. (medscape.com)
- Fetal activity may be decreased in the lethal types of skeletal dysplasia. (medscape.com)
- Maternal usage of warfarin or phenytoin may induce stippling of the epiphyses, resembling the skeletal dysplasia chondrodysplasia punctata. (medscape.com)
- When an infant affected with skeletal dysplasia has died before or shortly after birth, lethal chondrodysplasias should be considered. (medscape.com)
- Lethal types of congenital skeletal dysplasia include achondrogenesis, homozygous achondroplasia, chondrodysplasia punctata (recessive form), camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, thanatophoric dysplasia, and short-rib polydactyly syndromes. (medscape.com)
- Diagnosis of short-limb skeletal dysplasia is based on the most severely affected segment of the long bone. (medscape.com)
- Note short-limbed skeletal dysplasia, deformed extremities, and relatively large head. (medscape.com)
Autosomal5
- Cleidocranial dysplasia is usually inherited as autosomal dominant , but other modes of inheritance have been reported. (wikidoc.org)
- Cleidocranial dysplasia is an inherited skeletal anomaly that affects primarily the skull, clavicle, and dentition, which can occur spontaneously, but most are inherited in autosomal dominant mode. (jnsbm.org)
- RESULTS: The proband's clinical and radiological assessment showed facial features and clavicular changes in keeping with cleidocranial dysplasia, an autonomous autosomal dominant genetic disorder. (scielo.org.za)
- Cleidocranial dysplasia (CCD) is a rare congenital deformity inherited as an autosomal genetic trait with the prevalence of1:1,000,000. (yeditepe.edu.tr)
- Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. (nih.gov)
Ectodermal Dysplasia1
- Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia]. (bvsalud.org)
Abnormalities3
- Combined surgical and orthodontic management of the oral abnormalities in children with cleidocranial dysplasia . (lookfordiagnosis.com)
- Children with cleidocranial dysplasia have dental abnormalities which combine to prevent normal tooth eruption , and which if untreated may result in abnormal facial and jaw growth . (lookfordiagnosis.com)
- Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of heritable disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. (medscape.com)
Thanatophoric dysplasia1
- Infant with thanatophoric dysplasia. (medscape.com)
Clinical1
- Clinical and molecular study in a family with cleidocranial dysplasia]. (bvsalud.org)
Displasia cleidocraneal1
- Estudio clínico y molecular en una familia con displasia cleidocraneal. (bvsalud.org)
Hypophosphatasia1
- Severe cleidocranial dysplasia can mimic hypophosphatasia. (nih.gov)
Mesomelic2
- Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
- Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
Spondyloepimetaphyseal1
- Diagnosis of the short trunk variety includes Morquio syndrome, Kniest syndrome, Dyggve-Melchior-Clausen disease, metatrophic dysplasia, SED, and spondyloepimetaphyseal dysplasia (SEMD). (medscape.com)
Gaten1
- Just like in the show, Gaten has cleidocranial dysplasia (CCD) in real life as well which is a hereditary condition that impairs the formation of all bones, particularly his teeth and collarbones. (netflixdeed.com)
Rare1
- The beautiful actress named Milly Shapiro bio suffers from a rare genetic condition named, Cleidocranial Dysplasia. (todaytop24.com)
Syndrome3
- Micromelia (shortening of extremities involving entire limb) is present in achondrogenesis, fibrochondrogenesis, Kniest dysplasia, dys-segmental dysplasia, and Roberts syndrome. (medscape.com)
- While 21% of patients with Gardner syndrome and 35% with cleidocranial dysplasia had extra or supernumerary teeth. (magnumclinic.ae)
- Definition: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC). (doctorinternet.com)
Symptoms3
- When Do Symptoms of Cleidocranial dysplasia Begin? (nih.gov)
- Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. (medlineplus.gov)
- Cleidocranial dysplasia (CCD) primarily affects the development of bones and teeth, while the severity of symptoms vary. (inverse.com)
Orthodontic1
- Becker A, Shteyer A, Bimstein E, Lustmann J. Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality. (rockthemusic.de)
Clavicular2
- The proband's father, uncle and grandmother also had similar facial and clavicular features of cleidocranial dysplasia. (scielo.org.za)
- Several such variants can manifest as cleidocranial dysplasia, a condition with delayed fontanel closure, enlarged head circumference, clavicular dysmorphia, abnormal dentition, short stature, or hand defects. (e-jbm.org)
Microdeletion1
- Cleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review. (nih.gov)
Syndromes1
- The appearance of multiple additional teeth in the mouth is usually associated with certain syndromes, such as cleidocranial dysplasia. (magnumclinic.ae)
Bones6
- Cleidocranial dysplasia (CCD) affects the development of the bones, skull, and teeth. (nih.gov)
- Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. (medlineplus.gov)
- Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). (medlineplus.gov)
- Wormian bones filling suture lines, occasional absence of the parietal bones, faulty development of the foramen magnum, and dysplasia of the paranasal sinuses and mastoids. (wikidoc.org)
- Cleidocranial Dysplasia (CCD) is a disease that affects one's teeth as well as bones, like the skull, spine, collarbones, as well as bones in the legs. (todaytop24.com)
- He is afflicted with the condition cleidocranial dysplasia, a delayed development of bones. (celebnetworth.net)
Patients1
- Acromesomelic shortening (short middle and distal segments [eg, forearms, hands]) is present in patients with acromesomelic dysplasia. (medscape.com)
Involvement1
- Typified by short stature (defined as height that is three or more standard deviations below the mean height for age), skeletal dysplasias can be accompanied by involvement of other systems, including the neurologic, respiratory, and cardiac systems. (medscape.com)