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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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAchondrogenesis
Follow this link to review classifications for Achondrogenesis in Orphanet.

Professional guidelines

PubMed

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
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
Prenatal diagnosis of achondrogenesis.
Golbus MS, Hall BD, Filly RA, Poskanzer LB
J Pediatr 1977 Sep;91(3):464-6. doi: 10.1016/s0022-3476(77)81326-7. PMID: 894421
Prenatal diagnosis of achondrogenesis.
Anteby SO, Aviad I, Weinstein D
Radiol Clin (Basel) 1977;46(2):109-14. PMID: 300166

Recent clinical studies

Etiology

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Spectrum of severe skeletal dysplasias in North India.
Puri RD, Thakur S, Verma IC
Indian J Pediatr 2007 Nov;74(11):995-1002. doi: 10.1007/s12098-007-0183-y. PMID: 18057679
Birth prevalence rates of skeletal dysplasias.
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
The birth prevalence rates for the skeletal dysplasias.
Orioli IM, Castilla EE, Barbosa-Neto JG
J Med Genet 1986 Aug;23(4):328-32. doi: 10.1136/jmg.23.4.328. PMID: 3746832Free PMC Article
The lethal chondrodysplasias.
Maroteaux P, Stanescu V, Stanescu R
Clin Orthop Relat Res 1976 Jan-Feb;(114):31-45. PMID: 1261128

Diagnosis

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
The phenotype range of achondrogenesis 1A.
Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, Conner P
Am J Med Genet A 2013 Oct;161A(10):2554-8. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36106. PMID: 23956106
Achondrogenesis type 1B.
Superti-Furga A
J Med Genet 1996 Nov;33(11):957-61. doi: 10.1136/jmg.33.11.957. PMID: 8950678Free PMC Article
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B
Eur J Pediatr 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. PMID: 8157027
Birth prevalence rates of skeletal dysplasias.
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

Therapy

Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors.
Shi Y, Zhang B, Kong F, Li X
Medicine (Baltimore) 2018 Jul;97(29):e11471. doi: 10.1097/MD.0000000000011471. PMID: 30024522Free PMC Article
Fetal biometry of skeletal dysplasias: a multicentric study.
Goncalves L, Jeanty P
J Ultrasound Med 1994 Oct;13(10):767-75. doi: 10.7863/jum.1994.13.10.767. PMID: 7880297

Prognosis

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Medina CTN, Sandoval R, Oliveira G, da Costa Silveira K, Cavalcanti DP, Pogue R
Am J Med Genet A 2020 Apr;182(4):681-688. Epub 2020 Jan 5 doi: 10.1002/ajmg.a.61460. PMID: 31903676
Screening for spinal stenosis in achondroplastic patients undergoing limb lengthening.
Fernandes JA, Devalia KL, Moras P, Pagdin J, Jones S, Mcmullan J
J Pediatr Orthop B 2014 Mar;23(2):181-6. doi: 10.1097/BPB.0000000000000027. PMID: 24345918
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
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
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
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

Clinical prediction guides

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
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
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Rossi A, Cetta G, Piazza R, Bonaventure J, Steinmann B, Supereti-Furga A
Pediatr Pathol Mol Med 2003 Jul-Aug;22(4):311-21. doi: 10.1080/pdp.22.4.311.321. PMID: 14692227
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
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
Birth prevalence rates of skeletal dysplasias.
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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