Achondrogenesis
Last updated 19 Dec 2024
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Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterised by skeletal abnormalities that cause serious health problems. As a result, most infants with achondrogenesis die before birth or soon after, often due to respiratory failure.
Description
Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterised by skeletal abnormalities that cause serious health problems. As a result, most infants with achondrogenesis die before birth or soon after, often due to respiratory failure.
Researchers have described three main types of achondrogenesis: type 1A, type 1B, and type 2. While these types differ in their genetic causes and inheritance patterns, they often have overlapping signs and symptoms. Genetic testing and medical imaging are often needed to tell them apart.
All forms of achondrogenesis feature short arms and legs, a narrow chest, and underdeveloped lungs. Infants with achondrogenesis type 1A, which is also called TRIP11-related achondrogenesis, typically have ribs that fracture easily. Bone formation (ossification) is also severely reduced in the skull and spine.
Infants with achondrogenesis type 1B, which is also called SLC26A2-related achondrogenesis, often have short fingers and toes and feet that may turn inward and upward (clubfeet). Infants with achondrogenesis type 1B may also have a sac (pouch) formed from the inner lining of the abdominal cavity that pushes through a hole in the abdominal wall around the belly-button (umbilical hernia) or near the groin (inguinal hernia).
The ossification of the spine and pelvis may be severely reduced in infants with achondrogenesis type 2, which is also called COL2A1-related achondrogenesis. The distinctive facial features seen in infants with achondrogenesis type 2 include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (cleft palate).
Achondrogenesis type 2 and a similar skeletal disorder called hypochondrogenesis were once thought to be distinct conditions. However, because these conditions have overlapping features and a shared genetic cause, they are now considered to be part of the same disease spectrum.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
achondrogenesis type IA (Houston-Harris type)
achondrogenesis type IB (Fraccaro type)
achondrogenesis type II (Langer-Saldino type)
Further reading and references
- Achondrogenesis; MedlinePlus, National Library of Medicine.
- Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21.
- Borochowitz Z, Ornoy A, Lachman R, Rimoin DL. Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. Am J Med Genet. 1986 Jun;24(2):273-88. doi: 10.1002/ajmg.1320240208.
- Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 2004 Apr 30;126A(3):308-12. doi: 10.1002/ajmg.a.20597.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/
- Grigelioniene G, Geiberger S, Papadogiannakis N, Makitie O, Nishimura G, Nordgren A, Conner P. The phenotype range of achondrogenesis 1A. Am J Med Genet A. 2013 Oct;161A(10):2554-8. doi: 10.1002/ajmg.a.36106. Epub 2013 Aug 16.
- Kapur RP. Achondrogenesis. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5. doi: 10.2350/07-01-0216.1.
- Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:23.0.co;2-9.
- Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1.
- Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafe L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21;362(3):206-16. doi: 10.1056/NEJMoa0900158.
- Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. No abstract available.
- Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13.
- Unger S, Superti-Furga A. Achondrogenesis Type 1B. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1516/
- Vanegas S, Sua LF, Lopez-Tenorio J, Ramirez-Montano D, Pachajoa H. Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 2018 May 25;11:69-73. doi: 10.2147/TACG.S157235. eCollection 2018.
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