U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypochondrogenesis

MedGen UID:
107448
•Concept ID:
C0542428
•
Congenital Abnormality
Synonym: HYPOCHONDROGENESIS
SNOMED CT: Hypochondrogenesis (205483007)
Modes of inheritance:
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 dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019669
OMIM®: 120140; 200610
Orphanet: ORPHA93297

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypochondrogenesis
Follow this link to review classifications for Hypochondrogenesis 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 sonographic diagnosis of skeletal dysplasias.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B
Ultrasound Obstet Gynecol 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359. PMID: 19548204
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH
J Med Genet 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. PMID: 10745044Free PMC Article

Recent clinical studies

Etiology

Radiologic Features of Type II and Type XI Collagenopathies.
Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Prenatal sonographic diagnosis of skeletal dysplasias.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B
Ultrasound Obstet Gynecol 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359. PMID: 19548204
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
Ballo R, Beighton PH, Ramesar RS
Am J Med Genet 1998 Oct 30;80(1):6-11. doi: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0. PMID: 9800905
Cardiac malformation in two infants with hypochondrogenesis.
Potocki L, Abuelo DN, Oyer CE
Am J Med Genet 1995 Nov 20;59(3):295-9. doi: 10.1002/ajmg.1320590306. PMID: 8599352
Hypochondrogenesis.
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

Diagnosis

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P
Cesk Patol 2023 Summer;59(2):68-79. PMID: 37468326
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
Three-dimensional ultrasonographic presentation of micrognathia.
Lee W, McNie B, Chaiworapongsa T, Conoscenti G, Kalache KD, Vettraino IM, Romero R, Comstock CH
J Ultrasound Med 2002 Jul;21(7):775-81. doi: 10.7863/jum.2002.21.7.775. PMID: 12099566
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
Hypochondrogenesis; an additional case.
Hendrickx G, Hoefsloot F, Kramer P, Van Haelst U
Eur J Pediatr 1983 Jun-Jul;140(3):278-81. doi: 10.1007/BF00443377. PMID: 6628450

Prognosis

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH
J Med Genet 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. PMID: 10745044Free PMC Article
Cardiac malformation in two infants with hypochondrogenesis.
Potocki L, Abuelo DN, Oyer CE
Am J Med Genet 1995 Nov 20;59(3):295-9. doi: 10.1002/ajmg.1320590306. PMID: 8599352
Pathogenic mechanisms in osteochondrodysplasias.
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH
J Med Genet 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. PMID: 10745044Free PMC Article
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR
Nat Genet 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. PMID: 7550321
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, Bouvier R, Ritvaniemi P, Prockop DJ, Bonaventure J
J Biol Chem 1994 May 6;269(18):13663-9. PMID: 8175802
Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals.
Le Guellec D, Mallein-Gerin F, Treilleux I, Bonaventure J, Peysson P, Herbage D
Histochem J 1994 Sep;26(9):695-704. doi: 10.1007/BF00158202. PMID: 7843983
Hypochondrogenesis.
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity