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Chondrodystrophy


Presentation

  • Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1 (CDMP-1).[ncbi.nlm.nih.gov]
  • A diagnosis is based on presenting clinical signs and histopathological features of chondrodysplasia in affected limbs. A differential diagnosis would include chondrodysplasia in Dexter cattle, which usually present with cleft palate [5] .[vetbook.org]
  • Abstract A form of lethal short-limbed dwarfism (a new chondrodystrophy) has been presented. The clinical, radiological and histological characteristics of this entity have been discussed and illustrated.[link.springer.com]
  • In achondroplasia the dwarfism is readily apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth.[en.wikipedia.org]
  • Nevertheless, MPS IV (Morquio syndrome) usually presents in children aged 2‘4 years while other types present late in childhood. Significant morbidity can arise from neuro-orthopedic impairment, and the lifespan may be shortened.[doi.org]
Vomiting
  • 内臓発症】 *visceral ectopia【内臓転位(症)】 *visceral pain【内臓痛】(visceralgia) *visceral rheumatism【内臓リウマチ】 *visceralgia【内臓痛】(visceral pain) *vitreous clouding【硝子体混濁】(opacity of vitreous body) *vitreous hemorrhage【硝子体出血】 *vocal-cord adduction【声帯内転】 *volvulus【腸捻転】 *vomiting[medo.jp]

Treatment

  • Treatment - Chondrodystrophy There is no treatment at this time to promote actual bone growth in chondrodystrophy patients.[checkorphan.org]
  • Treatment For flock proceed as for prevention, no value to affected bird. Prevention Addition of manganese, choline, vitamins, correct mineral balance.[thepoultrysite.com]
  • There is no treatment at this time to promote actual bone growth in chondrodystrophy patients. The inheritance of the Chondrodystrophy gene is as follows: The games accommodate athletes who are 4'10" or less with chondrodystrophy or related causes.[diki.pl]
  • Read about chondrodystrophy medical facts: what is the definition of chondrodystrophy, medical treatment & how to treat chondrodystrophy, information about the causes, diagnosis, and related chondrodystrophy diseases.[signssymptoms.org]
  • No treatment is usually instigated as most calves cope with this disease adequately. Severely affected calves are usually euthanized.[vetbook.org]

Prognosis

  • Once the child is diagnosed the parents have to monitor the children because of several different factors Prognosis - Chondrodystrophy Not supplied.[checkorphan.org]
  • Prognosis and treatment During the neonatal period, the mortality rate is high (25%), usually caused by airway obstruction. If patients survive this period, the prognosis is favorable.[scielo.br]
  • This imperfect osseocartilaginous biology is usually attributed to defects in structural proteins, metabolic processes, or growth plate regulation. [1], [2], [3], [4] Arriving at a definitive diagnosis is critical in understanding prognosis, genetic counseling[doi.org]
  • This classification system can be helpful in providing information about prognosis and management for a given individual.[ncbi.nlm.nih.gov]

Etiology

  • DISORDER OF SOMATIC MOSAICISM EPIGENETIC CONTROL: MUTATIONS IN HISTONE ACETYLTRANSFERASE GENES CAUSE A VARIETY OF DISORDERS MUTATIONS IN miRNAs AND SEVERE SHORT STATURE THE PRIMORDIAL DWARFISMS THE SKELETAL CILIOPATHIES NOVEL SKELETAL DISORDERS OF UNKNOWN ETIOLOGY[doi.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001; 106 :244–50. [ PubMed : 11891674 ] Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.[ncbi.nlm.nih.gov]
  • The etiology of IJO is unknown. Dentiogenesis imperfecta. DI can occur separately from OI as an isolated familial condition as a result of pathogenic variants in DSPP on chromosome 4 [ Rajpar et al 2002 ]. Other.[ncbi.nlm.nih.gov]

Epidemiology

  • Kaplan, Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_19, (335-348), (2010). Richard M. Pauli, Achondroplasia, Management of Genetic Syndromes, (17-37), (2010). James A. J.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017;22:385-406. [ PUBMED ] 42. Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, et al.[doi.org]

Prevention

  • Treatment For flock proceed as for prevention, no value to affected bird. Prevention Addition of manganese, choline, vitamins, correct mineral balance.[thepoultrysite.com]
  • Prevention - Chondrodystrophy Not supplied. Diagnosis - Chondrodystrophy There are several ways to determine if a child has Chondrodystrophy including parent testing and x-rays.[checkorphan.org]
  • We recommend minimizing its phenotypic expression because an unacceptably large proportion of condors (up to 78 out of 146) would be prevented from breeding under a selection strategy designed to eliminate the allele.[journals.cambridge.org]
  • Follistatin-derived peptide expression in muscle decreases adipose tissue mass and prevents hepatic steatosis. Am J Physiol Endocrinol Metab. 2011; 300(3): E543-53. [ Pubmed ] 10: Uezumi A, Fukada S, Yamamoto N, Takeda S, Tsuchida K.[fujita-hu.ac.jp]
  • […] contractures, and prevent head and spinal deformity.[ncbi.nlm.nih.gov]

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