A number sign (#) is used with this entry because Dyggve-Melchior-Clausen disease (DMC) is caused by homozygous or compound heterozygous mutation in. Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder Differential diagnoses include Smith-McCort syndrome (SMC; see this term), which. Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of spondylo-epi-metaphyseal dysplasia and.
|Published (Last):||27 October 2014|
|PDF File Size:||10.39 Mb|
|ePub File Size:||11.29 Mb|
|Price:||Free* [*Free Regsitration Required]|
Subluxation of the hips is dyggve-melchior-clauseen. Spondylometaphyseal dysplasia, Kozlowski type, is a rare disorder characterized by short stature with a short neck and trunk, scoliosis or kyphoscoliosis, short hands and feet and limited joint movement associated dyggve-melchior-cllausen an abnormal dyggve-melchior-causen. He emphasized prominence of the jaw and relative microcephaly.
While the OMIM database is open to the public, fyggve-melchior-clausen seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. With age, other characteristics develop. Spondyloepiphyseal dysplasia tarda, an X-linked inherited disorder, is also a rare genetic disorder that primarily affects males and is characterized by short stature, kyphoscoliosis, and lumbar lordosis.
In some individuals, hip replacement is required. The disease often progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the knees and spinal cord compression secondary to instability of the atlas-axis. Dictionary of Medical Syndromes. The gene encodes for a Rab protein and the mutation lead to a marked deficiency of this protein.
Mutations in the same gene cause Smith-McCort dysplasia-1 Additionally, surgical techniques may be used to correct various other skeletal abnormalities such as subluxation or dislocation of the shoulder and hip joints.
Unfortunately, it is not free to produce. Last Edited July 13, Prognosis The disease often progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the knees and spinal cord compression secondary to instability of the atlas-axis. There has been some confusion about the inheritance of SMS because Yunis et al. Other radiographic abnormalities seen in DMC have been extensively reviewed by Spranger et al.
Electron microscopy demonstrated chondrocytes with dilated cisternae of rough endoplasmic reticulum RER containing fine granular or amorphous material similar to what had been reported in cases of DMC syndrome.
Irregularities of the iliac crest gave an appearance of a lace border around it. Normally, there is growth deficiency resulting in short stature. The vertebral body constrictions are most prominent between ages 8 and 12 years Aglan et al. Alternatively, there may be little or no production from one gene and production of a partially functioning protein from the other.
Normally, autosomal genes come in pair with an individual receiving one gene of the paired genes from his or her father, and the other from the mother. Genetic counseling Transmission is autosomal recessive. Differential diagnoses include Smith-McCort syndrome SMC; see this termwhich presents with the same clinical and radiological features as DMC but without intellectual deficiency, and Morquio disease or mucopolysaccharidosis type 4, MPS IV; see this termwhich is clinically similar but has specific radiological and enzymatic signs.
Heterogeneity of Dyggve-Melchior-Clausen dwarfism. Summary and related texts. CC HPO: The documents contained in this web site are presented for information purposes only. A histological study of the growth plate. These problems may in turn cause a waddling gait. Findings in both types may also include growth retardation, mildly course facial appearance, glaucoma, a prominent lower face, an abnormally short neck, pectus carinatum, kyphoscoliosis, platyspondyly, irregular epiphyses ends of the long bonesbroad metaphyses segments underneath the epiphysesgenu valgum, and flat feet.
Last Edited May 3, This latter feature because less prominent with time and disappears by adulthood Dyggve et al.
The pathognomonic radiographic findings for DMC and SMS include constrictions in the dygfve-melchior-clausen third of the vertebral bodies a double-humped appearanceand a lacy appearance of the upper portion of the iliac crest hipbone Hall-Craggs and Chapman Other features are a narrow thorax, short ribs and kyphoscoliosis, the latter contributing to the short trunk typical for this condition.
However, one patient has been reported with cortical atrophy Aglan et al. Clinical description Clinically, DMC is characterized by progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity.
Rare Disease Database
The clinical features of Morquio syndrome type B are usually fewer and milder than those associated with Morquio syndrome type A. This disease entry is based upon medical information available through May 25, Please check with the agencies listed in the Resources section for the most current information about this disorder.
Europ J Med Gen. Clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 3.
The patients were mentally retarded, and the urine showed mucopolysaccharide. In South Africa, Winship and Rubin described an affected brother and sister whose parents were first cousins and whose ancestors migrated fyggve-melchior-clausen South Africa from India in the 19th century. J Bone Joint Surg. Among the children from an uncle-niece marriage in Greenland, Dyggve et al.
KEGG DISEASE: Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia
This gene is sjndrome in the production of type 2 collagen, a connective tissue protein, which is essential for the normal development of bones and other connective tissues. We are determined to keep this website freely accessible.
Dyggve-Melchior-Clausen disease DMC is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias see this term.