U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Geleophysic dysplasia

MedGen UID:
483679
•Concept ID:
C3489726
•
Congenital Abnormality
Synonym: Geleophysic dwarfism
SNOMED CT: Geleophysic dysplasia (28557005); Geleophysic dwarfism syndrome (28557005)
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:0000127
OMIM® Phenotypic series: PS231050
Orphanet: ORPHA2623

Definition

A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeleophysic dysplasia
Follow this link to review classifications for Geleophysic dysplasia in Orphanet.

Professional guidelines

PubMed

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B
Am J Med Genet A 2021 Jul;185(7):2108-2118. Epub 2021 Apr 28 doi: 10.1002/ajmg.a.62236. PMID: 33908178
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V
J Med Genet 2011 Jun;48(6):417-21. Epub 2011 Mar 17 doi: 10.1136/jmg.2010.087544. PMID: 21415077Free PMC Article

Recent clinical studies

Etiology

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH
Eur J Med Genet 2018 Apr;61(4):219-224. Epub 2017 Nov 27 doi: 10.1016/j.ejmg.2017.11.018. PMID: 29191498
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V
J Med Genet 2016 Jul;53(7):457-64. Epub 2016 Apr 11 doi: 10.1136/jmedgenet-2015-103647. PMID: 27068007
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027
Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E
J Pediatr Orthop B 2002 Apr;11(2):100-3. doi: 10.1097/00009957-200204000-00003. PMID: 11943981

Diagnosis

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.
Mackenroth L, Rump A, Lorenz P, Schröck E, Tzschach A
Clin Dysmorphol 2016 Jul;25(3):106-9. doi: 10.1097/MCD.0000000000000124. PMID: 27057656
Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Clinical and morphological phenotype of geleophysic dysplasia.
Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D
Ann Trop Paediatr 2008 Jun;28(2):161-4. doi: 10.1179/146532808X302206. PMID: 18510828
Geleophysic dysplasia: a patient with a severe form of the disorder.
Panagopoulos P, Fryssira H, Koutras I, Daskalakis G, Economou A, Benetou V, Antsaklis A
J Obstet Gynaecol 2005 Nov;25(8):818-20. doi: 10.1080/01443610500336058. PMID: 16368598
Geleophysic dysplasia.
Wraith JE, Bankier A, Chow CW, Danks DM, Sardharwalla IB
Am J Med Genet 1990 Feb;35(2):153-6. doi: 10.1002/ajmg.1320350202. PMID: 2090119

Therapy

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y
Eur J Med Genet 2017 Dec;60(12):685-689. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.003. PMID: 28917829
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K
Gene 2013 Jan 10;512(2):456-9. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.10.060. PMID: 23124041

Prognosis

ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
Steinle J, Hossain WA, Lovell S, Veatch OJ, Butler MG
Am J Med Genet A 2021 Mar;185(3):743-752. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62030. PMID: 33369194Free PMC Article
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS
J Biol Chem 2020 Nov 13;295(46):15742-15753. Epub 2020 Sep 10 doi: 10.1074/jbc.RA120.014557. PMID: 32913123Free PMC Article
Clinical and morphological phenotype of geleophysic dysplasia.
Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D
Ann Trop Paediatr 2008 Jun;28(2):161-4. doi: 10.1179/146532808X302206. PMID: 18510828
Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E
J Pediatr Orthop B 2002 Apr;11(2):100-3. doi: 10.1097/00009957-200204000-00003. PMID: 11943981

Clinical prediction guides

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M
JCI Insight 2024 Feb 1;9(5) doi: 10.1172/jci.insight.174417. PMID: 38300707Free PMC Article
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS
J Biol Chem 2020 Nov 13;295(46):15742-15753. Epub 2020 Sep 10 doi: 10.1074/jbc.RA120.014557. PMID: 32913123Free PMC Article
Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
Hubmacher D, Taye N, Balic Z, Thacker S, Adams SM, Birk DE, Schweitzer R, Apte SS
Matrix Biol 2019 Sep;82:38-53. Epub 2019 Feb 7 doi: 10.1016/j.matbio.2019.02.001. PMID: 30738849Free PMC Article
Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V
Nat Genet 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199. PMID: 18677313Free PMC Article

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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...