Cleidocranial dysplasia

Cleidocranial Dysplasia (CCD) is a skeletal disorder characterized by open fontanelles (soft spot), small or absent clavicles (collarbones), and multiple dental abnormalities. It is a genetic birth defect caused by mutations to the RUNX2 gene. It occurs one in every one million births. It can be passed from an affected parent or can be a random mutation. Manifestations may vary among individuals in the same family. Teeth • Failure to lose baby teeth • Failure for permanent teeth to come in on their own • Supernumerary (extra) teeth • Retention cysts • Enamel hypoplasia: thin enamel caused by poor enamel formation • Crowded teeth • Jaw malocclusion: poor bite Height • People with CCD typically have a short stature • Average height for men is 5’2″– 5’6″ • Average height for women is 4’9″– 4’10” Head & Neck • Delayed closure of fontanelles (soft spots) • Large, open soft spot at birth that may close or remain open throughout life • Parietal bossing (broad/flat forehead) Chest • Narrow thorax (chest) • Ability to touch shoulders together • Small scapula • Small or absent clavicles (collarbones) with sloping shoulders • Short ribs • Cervical ribs: extra ribs that arise from vertebrae in the neck Face • Small mid-face: the portion of the face comprising nasal (nose), maxillary (upper jaw), and zygomatic bones (cheekbones) and the soft tissues covering these bones • Frontal bossing: prominent, protruding forehead • Metric groove: vertical dent in the middle of the forehead, norma...

Background Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features. The responsible gene for CCD is RUNX2 located on the short arm of chromosome 6p21. In general, there are intrafamilial variations in height among CCD patients. Few studies have reported data on recombinant human growth hormone (rhGH) treatment for patients with CCD; thus, it remains to be elucidated whether rhGH treatment can improve short stature. Here, we report a case of a 6-year-old girl with CCD who has growth hormone deficiency (GHD) and a novel mutation of RUNX2. Case presentation At 5 years of age, this patient was diagnosed with GHD and rhGH treatment was initiated. Thereafter, she was diagnosed with CCD due to the presence of hypoplastic clavicles and an open fontanelle, which was also observed in her mother and brother. She responded well to rhGH treatment; her height improved from − 3.2 SD to − 2.4 SD after 13 months. Conclusion A detailed patient history and physical examination are necessary for the early diagnosis of CCD. Similarly, to ascertain the effect of rhGH treatment, careful evaluation of the patient’s final height post-therapy is needed. Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance, which is characterized by abnormalities in systemic me...

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A rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe. Many rare diseases are genetic (caused by change in DNA), which change can be inherited, spontaneous, or epigenetic. Since there are many genes (~20,000), there are many possible defects. To date, about 7000 Rare Diseases have been identified. 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...

Medical condition Cleidocranial dysostosis Other names Cleidocranial dysplasia, Missing Usual onset Present at birth Causes Genetic ( Based on symptoms and Treatment Normal life expectancy Frequency One per million people Cleidocranial dysostosis ( CCD), also called cleidocranial dysplasia, is a The condition is either Treatment includes It affects about one per million people. cleido meaning collarbone, cranial from the Greek κρανίο meaning skull, and dysostosis meaning formation of abnormal bone. Signs and symptoms [ ] Cleidocranial dysostosis is a general skeletal condition People with the condition usually present with a painless swelling in the area of the clavicles at 2–3 years of age. • • The mandible is • A soft spot or larger soft area in the top of the head where the • Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition. • The • Failure of eruption of • Bossing (bulging) of the • Open skull sutures, large • • Delayed • • Short middle fifth • Vertebral abnormalities. • On rare occasions, • • Wide nasal bridge • Crooked teeth • Increased risk of • High risk of hearing loss caused by infections • Decreased bone density, resulting in increased risk of fractures Other features are: Genetics [ ] CCD is usually Diagnosis [ ] Different features of the dysostosis are significant. Radiological imaging helps confirm the diagnosis. During gestation (pregnancy), clavicular size can be calculate...

An extremely rare genetic condition that impacts only one out of 1 million births, cleidocranial dysplasia affects the way that the skull, bones, and teeth develop. 1 It can cause sloping shoulders, short stature, delayed closing of the spaces between skull bones, missing collarbones, and dental abnormalities. People with cleidocranial dysplasia can have misshapen teeth and jaws. It can also take longer to lose their baby teeth and for their adult teeth to come in. Cleidocranial Dysplasia Explained Cleidocranial dysplasia involves the RUNX2 gene, and it is an inherited condition. 2 This condition impacts everyone differently, even multiple people within the same family, but it affects bone development. 3 The condition often means that a person will have no collarbones (clavicles) or have underdeveloped ones. The skull and teeth are often involved as well. It is inherited as an autosomal dominant trait, meaning that only one of the genes is necessary to develop the disorder. If one parent has the abnormal gene, there is a 50 percent chance it will be passed on through pregnancy. The condition impacts males and females equally. Someone with cleidocranial dysplasia will often be shorter in stature, and their shoulders may slope forward. Facial features are regularly distorted. They include wide-set eyes, a prominent forehead, a flat nose, a small upper jaw, and a wide, short skull. Dental abnormalities are also common with cleidocranial dysplasia. Symptoms of Cleidocranial Dy...

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What is Cleidocranial Dysplasia? Cleidocranial Dysplasia (cleido = collar bone, + cranial = head, + dysplasia = abnormal forming), also known as Cleidocranial Dysostosis and Marie-Sainton Disease, is a condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles). ​ Characteristics include: • Delayed closure (ossification) of the space between the bones of the skull (fontanels) • Premature closing of the coronal suture • Protruding jaw (mandible) and protruding brow bone (frontal bossing) •

Account icon An icon in the shape of a person's head and shoulders. It often indicates a user profile. • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • All • A-Z • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • • Featured • • About • • • • • • • • Follow • • • • • • • Facebook Icon The letter F. Facebook Email icon An envelope. It indicates the ability to send an email. Email Twitter icon A stylized bird with an open mouth, tweeting. Twitter Snapchat icon A ghost. Snapchat Fliboard icon A stylized letter F. Flipboard Pinterest icon The letter "P" styled to look like a thumbtack pin. Pinterest Link icon An image of a chain link. It symobilizes a website link url. Copy Link Read in app • Warning: There are some minor spoilers ahead for season 2 of "Doom Patrol." • Abigail Shapiro spoke with Insider about her role as Dorothy Spinner on the HBO Max and DC Universe series. • The actress plays a girl who looks 11 years old, but is actually much older with a range of super abilities. • At first, it took about three hours each day to apply prosthetics to Shapiro's face to transform her into Dorothy. • Shapiro also told Insider about growing up with a rare bone disorder, and how it influenced her view of the character. • "I spent a lot of my life hiding my face and thinking I was really, really ugly, so that's how I relate to Dorothy a lot," said Shapiro. Shapiro spoke with Insider about being an advocate for tho...

What is Cleidocranial Dysplasia? Cleidocranial Dysplasia (cleido = collar bone, + cranial = head, + dysplasia = abnormal forming), also known as Cleidocranial Dysostosis and Marie-Sainton Disease, is a condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles). ​ Characteristics include: • Delayed closure (ossification) of the space between the b