Abnormal development of cartilage and bone.
Developmental bone diseases are a category of skeletal disorders that arise from disturbances in the normal growth and development of bones, including abnormalities in size, shape, structure, or composition, which can lead to various musculoskeletal impairments and deformities.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Congenital structural abnormalities and deformities of the musculoskeletal system.
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.

Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones. (1/458)

Schmid metaphyseal chondrodysplasia results from mutations within the COOH-terminal globular domain (NC1) of type X collagen, a short chain collagen expressed in the hypertrophic region of the growth plate cartilage. Previous in vitro studies have proposed that mutations prevent the association of the NC1 domain of constituent chains of the trimer based upon a lack of formation of a trimeric structure that is resistant to dissociation with sodium dodecyl sulfate. To examine the effect of mutations on folding and assembly within a cellular context, bovine type X cDNAs containing analogous disease causing mutations Y598D, N617K, W651R, and wild-type were expressed in semi-permeabilized cells. We assessed trimerization of the mutant chains by their ability to form a collagen triple helix. Using this approach, we demonstrate that although there is an apparent lower efficiency of association of the mutant NC1 domains, they can drive the formation of correctly aligned triple helices with the same thermal stability as the wild-type collagen. When epitope-tagged mutant and wild-type collagen were co-expressed, heterotrimers could be detected by sequential immunoprecipitation. Both wild-type and mutant type X chains were found in association with the molecular chaperones protein disulfide isomerase and Hsp 47. The implications of these findings on the likely mechanism of Schmid metaphyseal chondrodysplasia will be discussed.  (+info)

Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. (2/458)

Mutations in SOX9 cause campomelic dysplasia (CD), a dominant skeletal dysmorphology and XY sex reversal syndrome. The CD phenotype is sensitive to dosage and expression levels of SOX9. Sox9 is expressed during chondrocyte differentiation and is up-regulated in male and down-regulated in female genital ridges during sex differentiation. In order to study the sex- and tissue-specific regulation of Sox9, we have defined the transcription start site and characterized the mouse Sox9 promoter region. The Sox9 proximal promoter shows moderately high nucleotide similarity between mouse and human. Transient transfection experiments using various deletion constructs of the 6.8 kb upstream region of mouse Sox9 fused to a luciferase reporter showed that the interval between 193 and 73 bp from the transcription start site is essential for maximal promoter activity in cell lines and in primary male and female gonadal somatic cells and liver cells isolated from 13.5 d.p.c. mouse embryos. This minimal promoter region was shown by DNase I hypersensitive site assay to be in an 'open' state of chromatin structure in gonads of both sexes, but not in the liver. Promoter activity was higher in testis than in ovary and liver, but deletion of the region from -193 to -73 bp abolished this difference. We conclude that the proximal promoter region is in part responsible for the sex- and tissue-specific expression of the Sox9 gene and that more distal positive and negative elements contribute to its regulation in vivo, consistent with the observation that translocations upstream from SOX9 can result in campomelic dysplasia.  (+info)

Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high-risk patients? (3/458)

OBJECTIVE: To evaluate the possibility of an early diagnosis of skeletal dysplasias in high-risk patients. METHODS: A total of 149 consecutive, uncomplicated singleton pregnancies at 9-13 weeks' amenorrhea, with certain menstrual history and regular cycles, were investigated with transvaginal ultrasound to establish the relationship between femur length and menstrual age, biparietal diameter and crown-rump length, using a polynomial regression model. A further eight patients with previous skeletal dysplasias in a total of 13 pregnancies were evaluated with serial examinations every 2 weeks from 10-11 weeks. RESULTS: A significant correlation between femur length and crown-rump length and biparietal diameter was found, whereas none was observed between femur length and menstrual age. Of the five cases with skeletal dysplasias, only two (one with recurrent osteogenesis imperfecta and one with recurrent achondrogenesis) were diagnosed in the first trimester. CONCLUSIONS: An early evaluation of fetal morphology in conjunction with the use of biometric charts of femur length against crown-rump length and femur length against biparietal diameter may be crucial for early diagnosis of severe skeletal dysplasias. By contrast, in less severe cases, biometric evaluation appears to be of no value for diagnosis.  (+info)

COL9A3: A third locus for multiple epiphyseal dysplasia. (4/458)

Multiple epiphyseal dysplasia (MED), an autosomal dominant osteochondrodysplasia, is a clinically and genetically heterogeneous disorder characterized by mild short stature and early-onset osteoarthritis. The phenotypic spectrum includes the mild Ribbing type, the more severe Fairbank type, and some unclassified forms. Linkage studies have identified two loci for MED. One of these, EDM1, is on chromosome 19, in a region that contains the cartilage oligomeric matrix protein (COMP) gene. Mutations have been identified in this gene in patients with the Ribbing type, the Fairbank type, and unclassified forms of MED. The second locus, EDM2, maps to chromosome 1, in a region spanning COL9A2. Recently, a splice-site mutation was found in COL9A2, causing skipping of exon 3 in one family with MED. Because of the exclusion of the EDM1 and EDM2 loci in some families, the existence of a third locus has been postulated. We report here one family with MED, evaluated clinically and radiologically and tested for linkage with candidate genes, including COMP, COL9A1, COL9A2, and COL9A3. No linkage was found with COMP, COL9A1, or COL9A2, but an inheritance pattern consistent with linkage was observed with COL9A3. Mutation analysis of COL9A3 identified an A-->T transversion in the acceptor splice site of intron 2 in affected family members. The mutation led to skipping of exon 3 and an in-frame deletion of 12 amino acid residues in the COL3 domain of the alpha3(IX) chain and thus appeared to be similar to that reported for COL9A2. This is the first disease-causing mutation identified in COL9A3. Our results also show that COL9A3, located on chromosome 20, is a third locus for MED.  (+info)

Chondrodiatasis in a patient with spondyloepimetaphyseal dysplasia using the Ilizarov technique: successful correction of an angular deformity with ensuing ossification of a large metaphyseal lesion. A case report. (5/458)

Distraction through the physis (chondrodiatasis) is a controversial technique with unpredictable results. However, it has been used in the past for the lengthening and correction of angular deformities of long bones. We report the case of an 11-year-old patient with spondyloepimetaphyseal dysplasia (SEMD) who presented with a severe recurvatum deformity of the left proximal tibia secondary to collapse of the tibial plateau into a large metaphyseal cystic lesion. Using the chondrodiatasis technique with a percutaneously applied Ilizarov circular frame, we were able to correct this deformity. Surprisingly, healing and ossification of the metaphyseal lesion was simultaneously observed at the end of the treatment, a finding which, to the best of our knowledge, has not been previously reported.  (+info)

Multiple disc herniations in spondyloepiphyseal dysplasia tarda. A case report. (6/458)

Spondyloepiphyseal dysplasia (SED) tarda is a group of inherited dysplasias in which the spine and the epiphyses of long bones are affected from late childhood. A 19-year-old male was diagnosed as SED tarda. He had a thoracic and then lumbar disc herniations which were separated by a 4-year interval. Surgical excision was performed for each disc herniation. This is the first case report of multiple disc herniations in SED.  (+info)

The orthopaedic aspects of multiple epiphyseal dysplasia. (7/458)

Five cases of multiple epiphyseal dysplasia (MED) were treated from 1985-1996 at the Orthopaedics and Trauma Department of SSK Izmir Educational Hospital. Four patients were female and one was male. The pedigrees of the first two female patients had the same features of inter-related marriages. The patients have been followed up for 5.5-11 years (average of 7.5 years). Surgical operations were mostly required in the lower limbs. Problems in the hips required adductor myotomy, the Soutter procedure, total hip replacement, and pertrochanteric extension osteotomy. Management of the knees required supracondylar shortening and extension osteotomy of the femur, high tibial extension osteotomy, debridement of the knee joint with removal of osteophytes, ogleotomy of the patellar lengthening of the knee flexors and posterior capsulotomy. Interphalangeal arthrodesis for hammer toes, extension osteotomy of the head of the first metatarsals, and Kellers operation were carried out in the foot. In the upper limb decompression and anterior transposition of the ulnar nerve, debridement of the elbow joint, extension and valgus osteotomy of the distal radius, and extension osteotomy of the head of the first metacarpal were required.  (+info)

Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia. (8/458)

Collagen X is a short-chain homotrimeric collagen expressed in the hypertrophic zone of calcifying cartilage. The clustering of mutations in the carboxyl-terminal nonhelical NC1 domain in Schmid metaphyseal chondrodysplasia (SMCD) suggests a critical role for NC1 in collagen X structure and function. In vitro collagen X DNA expression, using T7-driven coupled transcription and translation, demonstrated that although alpha1(X) containing normal NC1 domains can form electrophoretically stable trimers, engineered SMCD NC1 missense or premature termination mutations prevented the formation of electrophoretically stable homotrimers or heterotrimers when co-expressed with normal alpha1(X). To allow the detection of more subtle interactions that may interfere with assembly but not produce SDS-stable final products, we have developed a competition-based in vitro co-expression and assembly approach. Our studies show that alpha1(X) chains containing SMCD mutations reduce the efficiency of normal alpha1(X) trimer assembly, indicating that interactions do occur between mutant and normal NC1 domains, which can impact on the formation of normal trimers. This finding has important implications for the molecular pathology of collagen X mutations in SMCD. Although we have previously demonstrated haploinsufficiency as one in vivo mechanism (Chan, D., Weng, Y. M., Hocking, A. M., Golub, S., McQuillan, D. J., and Bateman, J. F. (1998) J. Clin. Invest. 101, 1490-1499), the current study suggests dominant interference is also possible if the mutant protein is expressed in vivo. Furthermore, we establish that a conserved 13-amino acid aromatic motif (amino acids 589-601) is critical for the interaction between the NC1 domains, suggesting that this region may initiate assembly and the other NC1 mutations interfered with secondary interactions important in folding or in stabilizing the assembly process.  (+info)

Osteochondrodysplasias are a group of genetic disorders that affect the development of bones and cartilage. These conditions can result in dwarfism or short stature, as well as other skeletal abnormalities. Osteochondrodysplasias can be caused by mutations in genes that regulate bone and cartilage growth, and they are often characterized by abnormalities in the shape, size, and/or structure of the bones and cartilage.

There are many different types of osteochondrodysplasias, each with its own specific symptoms and patterns of inheritance. Some common examples include achondroplasia, thanatophoric dysplasia, and spondyloepiphyseal dysplasia. These conditions can vary in severity, and some may be associated with other health problems, such as respiratory difficulties or neurological issues.

Treatment for osteochondrodysplasias typically focuses on managing the symptoms and addressing any related health concerns. This may involve physical therapy, bracing or surgery to correct skeletal abnormalities, and treatment for any associated medical conditions. In some cases, genetic counseling may also be recommended for individuals with osteochondrodysplasias and their families.

Developmental bone diseases are a group of medical conditions that affect the growth and development of bones. These diseases are present at birth or develop during childhood and adolescence, when bones are growing rapidly. They can result from genetic mutations, hormonal imbalances, or environmental factors such as poor nutrition.

Some examples of developmental bone diseases include:

1. Osteogenesis imperfecta (OI): Also known as brittle bone disease, OI is a genetic disorder that affects the body's production of collagen, a protein necessary for healthy bones. People with OI have fragile bones that break easily and may also experience other symptoms such as blue sclerae (whites of the eyes), hearing loss, and joint laxity.
2. Achondroplasia: This is the most common form of dwarfism, caused by a genetic mutation that affects bone growth. People with achondroplasia have short limbs and a large head relative to their body size.
3. Rickets: A condition caused by vitamin D deficiency or an inability to absorb or use vitamin D properly. This leads to weak, soft bones that can bow or bend easily, particularly in children.
4. Fibrous dysplasia: A rare bone disorder where normal bone is replaced with fibrous tissue, leading to weakened bones and deformities.
5. Scoliosis: An abnormal curvature of the spine that can develop during childhood or adolescence. While not strictly a developmental bone disease, scoliosis can be caused by various underlying conditions such as cerebral palsy, muscular dystrophy, or spina bifida.

Treatment for developmental bone diseases varies depending on the specific condition and its severity. Treatment may include medication, physical therapy, bracing, or surgery to correct deformities and improve function. Regular follow-up with a healthcare provider is essential to monitor growth, manage symptoms, and prevent complications.

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

Musculoskeletal abnormalities refer to structural and functional disorders that affect the musculoskeletal system, which includes the bones, muscles, cartilages, tendons, ligaments, joints, and other related tissues. These abnormalities can result from genetic factors, trauma, overuse, degenerative processes, infections, or tumors. They may cause pain, stiffness, limited mobility, deformity, weakness, and susceptibility to injuries. Examples of musculoskeletal abnormalities include osteoarthritis, rheumatoid arthritis, scoliosis, kyphosis, lordosis, fractures, dislocations, tendinitis, bursitis, myopathies, and various congenital conditions.

Achondroplasia is a genetic disorder that affects bone growth, leading to dwarfism. It is the most common form of short-limbed dwarfism and is caused by a mutation in the FGFR3 gene. This mutation results in impaired endochondral ossification, which is the process by which cartilage is converted into bone.

People with achondroplasia have a characteristic appearance, including:

* Short stature (typically less than 4 feet, 4 inches tall)
* Disproportionately short arms and legs
* Large head with a prominent forehead and flat nasal bridge
* Short fingers with a gap between the middle and ring fingers (known as a trident hand)
* Bowing of the lower legs
* A swayed back (lordosis)

Achondroplasia is usually inherited in an autosomal dominant manner, which means that a child has a 50% chance of inheriting the disorder if one parent has it. However, about 80% of cases result from new mutations in the FGFR3 gene and occur in people with no family history of the condition.

While achondroplasia can cause various medical issues, such as breathing difficulties, ear infections, and spinal cord compression, most individuals with this condition have normal intelligence and a typical lifespan. Treatment typically focuses on managing specific symptoms and addressing any related complications.

Thnanatophoric Dysplasia is a severe skeletal disorder characterized by extreme short limbs, a narrow chest, and large head. It is one of the most common types of short-limbed dwarfism. The name "thanatophoric" comes from the Greek word thanatos, meaning death, as this condition is often lethal in the newborn period or shortly thereafter due to respiratory distress.

The disorder is caused by mutations in the FGFR3 gene, which provides instructions for making a protein that is part of a group of proteins called fibroblast growth factor receptors. These receptors play critical roles in many important processes during embryonic development, such as controlling bone growth.

There are two major types of thanatophoric dysplasia: type I and type II. Type I is characterized by curved thigh bones (femurs) and a clover-leaf shaped skull. Type II is characterized by straight femurs and an unossified (not fully developed) vertebral column.

The diagnosis of thanatophoric dysplasia can be made prenatally through ultrasound examination or postnatally through physical examination, X-rays, and genetic testing. Unfortunately, due to the severity of the condition, there is no cure for thanatophoric dysplasia and management is supportive in nature, focusing on providing comfort and addressing any complications that may arise.

Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.

There are two main types of growth disorders:

1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.

Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.

"Four recently described osteochondrodysplasias". Progress in Clinical and Biological Research. 104: 345-350. PMID 7163279. (CS1 ...
Osteochondrodysplasias can result in marked functional limitation and even mortality. Osteochondrodysplasias subtypes can ... Juvenile idiopathic arthritis may closely resemble the clinical presentation of some osteochondrodysplasias or genetic skeletal ... Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of ... Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. ...
"Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus". Cell. 80 (3): 431-7. doi:10.1016/ ...
... evaluated the results of a 5-year study on the occurrence of a broad range of osteochondrodysplasias. Out of 38,048 newborns in ... "Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population". Birth Defects Research. Part A, ... some which distinguish it from other osteochondrodysplasias. These include: fibroblastic dysplasia and fibrosis of chondrocytes ...
Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. Prenatal and neonatal ... chondrocytes of this type are rarely found in osteochondrodysplasias), brachydactyly (shortened fingers) and micromelia ( ... diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the " ...
Mutations can cause the osteochondrodysplasias pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). COMP is a ...
... or knock knees is one of the known skeletal manifestations of Osteochondrodysplasias. A complete bone X-ray survey ...
Osteochondrodysplasias or genetic bone diseases can cause lower extremity deformities similar to Blount's disease. The clinical ...
... osteochondrodysplasias, arthrogryposis multiplex congenita, idiopathic, trauma, and renal osteodystrophy among others. ... are concerns about the use of temporary hemiepiphysiodesis in certain diseases as Blount's disease and osteochondrodysplasias. ... phenomenon and subsequent repeated surgeries has been closely linked to bone deformities arising from osteochondrodysplasias. ...
However, various other types of osteochondrodysplasias can cause short stature and generalized deformities of bones and joints ... arthrogryposis multiplex congenita and osteochondrodysplasias among others. This applies to bone and joint deformities in the ...
... osteochondrodysplasias MeSH C05.116.099.708.017 - achondroplasia MeSH C05.116.099.708.195 - chondrodysplasia punctata MeSH ...
Mutations in this gene are associated with two types of recessive osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC) ...
Various childhood onset disorders can mimic the clinical and X-ray picture of scurvy such as: Rickets Osteochondrodysplasias ...
... diseases Tumor-induced osteomalacia McCune-Albright syndrome Epidermal nevus syndrome Dent's disease Osteochondrodysplasias, ...
Learn about Osteochondrodysplasias at online-medical-dictionary.org ... Osteochondrodysplasias. Synonyms. Chondrodystrophic Myotonia. Chondrodystrophy, Myotonic. Dyschondroplasia. Dyschondroplasias. ...
Osteochondrodysplasias - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer ... In osteochondrodysplasias, the growth and development of bone Bones Bone, although strong, is a constantly changing tissue that ... Osteochondrodysplasias (Genetic Skeletal Dysplasias; Osteochondrodysplastic Dwarfism). By Frank Pessler , MD, PhD, Helmholtz ... Osteochondrodysplasias are a group of rare hereditary disorders of connective tissue, bone, or cartilage that cause the ...
Osteochondrodysplasias (Osteochondrodysplastic Dwarfism) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis ... Osteochondrodysplasias (Osteochondrodysplastic Dwarfism) (Genetic Skeletal Dysplasias). By Frank Pessler , MD, PhD, Helmholtz ... Treatment of Osteochondrodysplasias *. Sometimes surgical limb-lengthening, surgical correction of leg bowing, or joint ... Osteochondrodysplasias are inherited abnormalities of growth and development of connective tissue, bone, and/or cartilage. ...
Bone Diseases, Developmental - Osteochondrodysplasias PubMed MeSh Term *Overview. Overview. subject area of * Hypo- and Hyper- ...
Other osteochondrodysplasias (Q78). List of Present On Admission Exempt (POA) ICD-10-CM Codes for: "Other ... osteochondrodysplasias (Q78)" for the fiscal year 2023. There are 9 diagnosis codes exempt from POA reporting in this chapter. ...
"Four recently described osteochondrodysplasias". Progress in Clinical and Biological Research. 104: 345-350. PMID 7163279. (CS1 ...
Osteochondrodysplasias* / genetics * Retinal Detachment* / diagnosis * Retinal Detachment* / genetics * Tomography, Optical ...
The genetic basis of the osteochondrodysplasias. J Pediatr Orthop. 2000 Sep-Oct. 20(5):594-605. [QxMD MEDLINE Link]. ... International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet. 1998 Oct 12. 79(5):376-82. ... Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of heritable disorders characterized by ... "International Nomenclature and Classification of the Osteochondrodysplasias." [1] In the revised nomenclature, families of ...
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995; 80: 431-437. ...
Categories: Osteochondrodysplasias Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
or skeletal dysplasia Osteochondrodysplasias Osteochondrodysplasias are a group of rare hereditary disorders of connective ...
The epiphyses (singular: epiphysis) are the rounded portions at the ends of a bone separated from the metaphysis by the physis. The epiphysis contributes to a joint, compared with an apophysis which is a site of tendon or ligament attachment. Once the growth plate has fused, the epiphysis and metaphysis are joined. ...
Osteogenesis Imperfecta - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
The genetic basis of the osteochondrodysplasias. J Pediatr Orthop. 2000 Sep-Oct. 20 (5):594-605. [QxMD MEDLINE Link]. ...
Osteochondrodysplasias [C05.116.099.708]. *Osteochondroma [C05.116.099.708.670]. *Osteochondromatosis [C05.116.099.708.670.615] ...
Schafer, A. L., Mumm, S., El-Sayed, I., McAlister, W. H., Horvai, A. E., Tom, A. M., Hsiao, E. C., Schaefer, F. V., Collins, M. T., Anderson, M. S., Whyte, M. P. & Shoback, D. M., Apr 2014, In: Journal of Bone and Mineral Research. 29, 4, p. 911-921 11 p.. Research output: Contribution to journal › Article › peer-review ...
Osteochondrodysplasias [C05.116.099.708]. *Cleidocranial Dysplasia [C05.116.099.708.207]. *Musculoskeletal Abnormalities [ ...
Osteochondrodysplasias. Smiths Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pennsylvania: WB Saunders ... Gugliantini P, Maragliano G, Piscione M, Licata G. Constitutional osteochondrodysplasias identifiable at birth. A short review ...
Osteochondrodysplasias. Smiths Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pennsylvania: WB Saunders ... Gugliantini P, Maragliano G, Piscione M, Licata G. Constitutional osteochondrodysplasias identifiable at birth. A short review ...
Osteochondrodysplasias 1 0 Periodontitis 1 0 Spondylitis, Ankylosing 1 0 Crohn Disease 1 1 ...
Osteochondrodysplasias. Smiths Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pennsylvania: WB Saunders ... Gugliantini P, Maragliano G, Piscione M, Licata G. Constitutional osteochondrodysplasias identifiable at birth. A short review ...
Use SelfDecode to get personalized health recommendations based on your genes. Get started today with an existing DNA file or order a SelfDecode DNA kit!
Osteochondrodysplasias Sulfate Adenylyltransferase Substances PAPS synthetase Sulfate Adenylyltransferase PMID: 36421772. View ...
Osteochondrodysplasias 2 0 Osteoporosis, Postmenopausal 1 0 Pneumonia 1 0 Polyneuropathies 1 0 ...
Osteochondrodysplasias (MeSH) * Protein Binding (MeSH) * Protein Conformation, alpha-Helical (MeSH) * Protein Conformation, ...
The mission of the Public Health Genomics is to integrate advances in human genetics into public health research, policy, and programs
TD fetuses in utero cannot be clearly distinguished from other osteochondrodysplasias. ...
Schuurs-Hoeijmakers, J. H. M., Geraghty, M. T., Kamsteeg, E. J., Ben-Salem, S., De Bot, S. T., Nijhof, B., Van De Vondervoort, I. I. G. M., Van Der Graaf, M., Nobau, A. C., Otte-Höller, I., Vermeer, S., Smith, A. C., Humphreys, P., Schwartzentruber, J., Ali, B. R., Al-Yahyaee, S. A., Tariq, S., Pramathan, T., Bayoumi, R., Kremer, H. P. H., & 20 othersVan De Warrenburg, B. P., Van Den Akker, W. M. R., Gilissen, C., Veltman, J. A., Janssen, I. M., Vulto-Van Silfhout, A. T., Van Der Velde-Visser, S., Lefeber, D. J., Diekstra, A., Erasmus, C. E., Willemsen, M. A., Vissers, L. E. L. M., Lammens, M., Van Bokhoven, H., Brunner, H. G., Wevers, R. A., Schenck, A., Al-Gazali, L., De Vries, B. B. A. & De Brouwer, A. P. M., Dec 7 2012, In: American Journal of Human Genetics. 91, 6, p. 1073-1081 9 p.. Research output: Contribution to journal › Article › peer-review ...
Osteochondrodysplasias [C05.116.099.708]. *Osteosclerosis [C05.116.099.708.702]. *Osteopoikilosis [C05.116.099.708.702.685]. * ...
  • Osteochondrodysplasias involve abnormal bone or cartilage growth, leading to skeletal maldevelopment, often short-limbed dwarfism. (msdmanuals.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)
  • Mast-cell tumors and bone diseases, such as Osteochondrodysplasias, affect the skeletal system. (updatedideas.com)
  • Each type of osteochondrodysplasia causes different symptoms, but all osteochondrodysplasias cause short stature (dwarfism). (merckmanuals.com)
  • Some osteochondrodysplasias cause more shortening of the limbs than the trunk (short-limbed dwarfism), whereas others cause more shortening of the trunk than the limbs. (merckmanuals.com)
  • Sometimes the abnormal genes responsible for osteochondrodysplasias can be detected, usually by a blood test. (merckmanuals.com)
  • Osteochondrodysplasias are a group of rare hereditary disorders of connective tissue, bone, or cartilage that cause the skeleton to develop abnormally. (merckmanuals.com)
  • Osteochondrodysplasias are inherited abnormalities of growth and development of connective tissue, bone, and/or cartilage. (msdmanuals.com)
  • Because the basic genetic defects have been identified in most of the osteochondrodysplasias, genetic counseling can be effective. (merckmanuals.com)
  • In achondroplasia and other nonlethal osteochondrodysplasias, surgery (eg, hip replacement) can help improve joint function. (msdmanuals.com)
  • Currently accepted birth prevalence for osteochondrodysplasias (OCD) of about 2/10,000 is based on few studies from small series of cases. (fiocruz.br)
  • No article was found for Osteochondrodysplasias and SOX9[original query] . (cdc.gov)
  • Each type of osteochondrodysplasia causes different symptoms, but all osteochondrodysplasias cause short stature (dwarfism). (msdmanuals.com)
  • Osteochondrodysplasias are a group of rare hereditary disorders of connective tissue, bone, or cartilage that cause the skeleton to develop abnormally. (msdmanuals.com)
  • Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias . (radiopaedia.org)
  • Achondroplasia is one of a group of conditions called chondrodystrophies or osteochondrodysplasias. (medlineplus.gov)