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Achondrogenesis Type 2


Presentation

  • Features of the Color Atlas of Pediatric Pathology include: Comprehensive coverage of pediatric surgical and autopsy pathology Each chapter is presented by a recognized expert Practical presentation: concise text highlights diagnostic features making[books.google.de]
  • […] may be present include: polyhydramnios development of hydrops fetalis Treatment and prognosis The prognosis is generally poor, with most infants being stillborn or dying soon after birth.[radiopaedia.org]
  • Get Update Overview Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone.[diseaseinfosearch.org]
Ear Deformity
  • Associated malformations include urinary tract duplication, hydronephrosis, cleft palate, ear deformities, corneal clouding and blue sclera, anal atresia and aplastic testis.[fetalultrasound.com]
Skeletal Dysplasia
  • Key Words: Achondrogenesis type 2 ; Congenital skeletal dysplasia[jpatholtm.org]
  • ", keywords "Autopsy, Dilation and evacuation, Genetic testing, Lethal skeletal dysplasia, Short long bones", author "Weisman, {Paul S.} and Kashireddy, {Papreddy V.} and Ernst, {Linda M.[scholars.northwestern.edu]
  • Cause of achondrogenesis type 1A Statistics from Altmetric.com Achondrogenesis type 1A is a rare, rapidly lethal, autosomal recessive, skeletal dysplasia characterised by very short limbs; short, easily fractured ribs and a narrow chest; soft skull bones[adc.bmj.com]
  • Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death.[ncbi.nlm.nih.gov]
  • Achondrogenesis refers to a group of rare and extreme skeletal dysplasias. The estimated incidence is 1:40,000 with no recognized gender predilection.[radiopaedia.org]
Frontal Bossing
  • Additional sonographic findings include: micrognathia macrocephaly frontal bossing flat face anteverted nares long philtrum narrow fetal thorax lung aplasia / hypoplasia rib fractures may be present in type 1A Other ancillary sonographic features that[radiopaedia.org]

Treatment

  • Treatment - Achondrogenesis type 2 Treatment of achondrogenesis is symptomatic and supportive and involves palliative care, in which physicians attempt to reduce or minimize pain, stress and specific symptoms associated with the disorder.[checkorphan.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors.[books.google.com]
  • There is no treatment for Achondrogenesis. The only real option available to parents is genetic counselling to screen for the birth defect and make an informed choice in consultation with their doctor.[myvmc.com]
  • No treatments exist for the disorder. Care focuses on making the baby as comfortable as possible for the duration of their life.[healthline.com]

Prognosis

  • The prognosis is generally poor, with most infants being stillborn or dying soon after birth.[radiopaedia.org]
  • Prognosis of Developmental Bone Birth Defect (Achondrogenesis) The outcome of this birth defect is generally very poor.[myvmc.com]
  • Prognosis - Achondrogenesis type 2 This disorder is fatal at birth or soon after.[checkorphan.org]
  • Follow-up prognosis was even worse after the autopsy, or at least that’s what we were told. Frankly, it’s done. I don’t want to know much more. The hardest thing for me to overcome, besides the crippling grief, is the word abortion.[endingawantedpregnancy.com]
  • Prognosis This disorder is fatal at birth or soon after. Type 1 is considered more severe, partly because infants with type 1 are more likely to be stillborn and generally succumb to the disorder earlier than infants with type 2 achondrogenesis.[encyclopedia.com]

Etiology

  • Etiology ... Classification ... Clinical features ... Diagnosis and differential diagnosis ... Associated anomalies ... Prognosis ... Type of inheritance ...[ibis-birthdefects.org]
  • This led us to hypothesize that the etiologic mutation was in COL2A1. WES identified a five-base pair deletion in this gene.[bmcmedgenet.biomedcentral.com]
  • Putting together what we know about the etiology of Paget's: J. Clin. Inv. 115 : 200, 2005. The fundamental lesion is that osteoclast precursors are too sensitive to factors that transform them into osteoclasts.[pathguy.com]

Epidemiology

  • Not only are good current epidemiologic studies not there (meta-analysis BMJ 333 : 775, 2006), the idea also doesn't make sense -- osteoporosis reflects a lack of matrix protein, not a lack of calcium.[pathguy.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Mutation series of the DDST gene have been observed in achondrogenesis type IB patients. Compound heterozygosity or homozygosity for the mutations is associated with achodrogenesis type IB.[medigest.uk]
  • Pathophysiology A series of mutations in the DDST gene has been identified in patients with achondrogenesis type IB.5, 6 Homozygosity or compound heterozygosity for these mutations, which leads to premature stop codons or structural mutations in transmembrane[odlarmed.com]

Prevention

  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. Read more at Wikipedia.org[the-medical-dictionary.com]
  • Mutations in the TRIP11 gene prevent the production of functional GMAP-210, which alters the structure and function of the Golgi apparatus.[ghr.nlm.nih.gov]
  • Achondrogenesis- type 4, ACG2, Achondrogenesis, Langer-Saldino type, Langer-Saldino achondrogenesis, Chondrogenesis imperfecta Symptoms - Achondrogenesis type 2 Causes - Achondrogenesis type 2 Prevention - Achondrogenesis type 2 Not supplied.[checkorphan.org]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.[bionity.com]
  • What parent could allow their child to suffer, even for a minute, if they could prevent it? We couldn’t let her be hurt, not our little girl. That, and we were warned of the risks to me, if we waited.[endingawantedpregnancy.com]

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