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Achondrogenesis

MedGen UID:
84
Concept ID:
C0001079
Congenital Abnormality
Synonym: Achondrogenesis Syndrome
SNOMED CT: Achondrogenesis (2391001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0019648
OMIM® Phenotypic series: PS200600
Orphanet: ORPHA932

Definition

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD
Eur J Med Genet 2022 Oct;65(10):104595. Epub 2022 Aug 22 doi: 10.1016/j.ejmg.2022.104595. PMID: 36007841
Offiah AC, Vockley J, Munns CF, Murotsuki J
Pediatr Radiol 2019 Jan;49(1):3-22. Epub 2018 Oct 3 doi: 10.1007/s00247-018-4239-0. PMID: 30284005Free PMC Article
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202

Recent clinical studies

Etiology

Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL
Am J Med Genet A 2008 Aug 1;146A(15):1917-24. doi: 10.1002/ajmg.a.32269. PMID: 18627037Free PMC Article
Tretter AE, Saunders RC, Meyers CM, Dungan JS, Grumbach K, Sun CC, Campbell AB, Wulfsberg EA
Am J Med Genet 1998 Feb 17;75(5):518-22. PMID: 9489797
Stoll C, Dott B, Roth MP, Alembik Y
Clin Genet 1989 Feb;35(2):88-92. doi: 10.1111/j.1399-0004.1989.tb02912.x. PMID: 2785882
Maroteaux P, Stanescu V, Stanescu R
Clin Orthop Relat Res 1976 Jan-Feb;(114):31-45. PMID: 1261128

Diagnosis

Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Superti-Furga A
J Med Genet 1996 Nov;33(11):957-61. doi: 10.1136/jmg.33.11.957. PMID: 8950678Free PMC Article
Spranger J, Winterpacht A, Zabel B
Eur J Pediatr 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. PMID: 8157027
Stoll C, Dott B, Roth MP, Alembik Y
Clin Genet 1989 Feb;35(2):88-92. doi: 10.1111/j.1399-0004.1989.tb02912.x. PMID: 2785882
Aithala G, Baliga M, Murthi S, Venkatesh A
Indian Pediatr 1981 Sep;18(9):672-5. PMID: 7319620

Therapy

Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article
Goncalves L, Jeanty P
J Ultrasound Med 1994 Oct;13(10):767-75. doi: 10.7863/jum.1994.13.10.767. PMID: 7880297

Prognosis

Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100
Goncalves L, Jeanty P
J Ultrasound Med 1994 Oct;13(10):767-75. doi: 10.7863/jum.1994.13.10.767. PMID: 7880297
Andersen PE Jr, Hauge M
J Med Genet 1989 Jan;26(1):37-44. doi: 10.1136/jmg.26.1.37. PMID: 2783977Free PMC Article

Clinical prediction guides

Upadhyai P, Radhakrishnan P, Guleria VS, Kausthubham N, Nayak SS, Superti-Furga A, Girisha KM
Hum Mutat 2021 Aug;42(8):1005-1014. Epub 2021 Jun 8 doi: 10.1002/humu.24235. PMID: 34057271
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Dwyer E, Hyland J, Modaff P, Pauli RM
Am J Med Genet A 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. PMID: 21077202
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100
Stoll C, Dott B, Roth MP, Alembik Y
Clin Genet 1989 Feb;35(2):88-92. doi: 10.1111/j.1399-0004.1989.tb02912.x. PMID: 2785882

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