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Grebe syndrome(AMDG; AMD2A)

MedGen UID:
75557
Concept ID:
C0265260
Disease or Syndrome
Synonyms: ACROMESOMELIC DYSPLASIA 2A; ACROMESOMELIC DYSPLASIA, GREBE TYPE; Brazilian achondrogenesis; Chondrodysplasia, Grebe Type; GREBE DYSPLASIA
SNOMED CT: Grebe dysplasia (77542002); Grebe syndrome (77542002); Acromesomelic dysplasia Grebe type (77542002)
Modes of inheritance:
 
GDF5 (20q11.22)
 
Monarch Initiative: MONDO:0008703
OMIM®: 200700
Orphanet: ORPHA2098

Definition

Acromesomelic dysplasia-2A (AMD2A), or Grebe chondrodysplasia, is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia (Costa et al., 1998). For discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGrebe syndrome

Professional guidelines

PubMed

Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K
Genet Med 2018 Jan;20(1):98-108. Epub 2017 Jun 29 doi: 10.1038/gim.2017.75. PMID: 28661489

Recent clinical studies

Diagnosis

Cordero DR, Goldberg Y, Basel D, Kilpatrick MW, Klugman S, Tsipouras P, Gross S
J Ultrasound Med 2006 Jan;25(1):115-8; quiz 119-21. doi: 10.7863/jum.2006.25.1.115. PMID: 16371562
Rao N, Joseph B
Skeletal Radiol 2002 Mar;31(3):183-7. Epub 2002 Jan 23 doi: 10.1007/s00256-001-0461-0. PMID: 11935206
Lin AE, Wheeler PG, Smith R
Clin Genet 2001 Jan;59(1):25-7. doi: 10.1034/j.1399-0004.2001.590104.x. PMID: 11168021
Kulkarni ML, Kulkarni BM, Nasser PU
Indian Pediatr 1995 Sep;32(9):1007-11. PMID: 8935268
Romeo G, Zonana J, Rimoin DL, Lachman RS, Scott CI Jr, Kaveggia EG, Spranger JW, Opitz JM
J Pediatr 1977 Dec;91(6):918-23. doi: 10.1016/s0022-3476(77)80890-1. PMID: 925797

Therapy

Lin AE, Wheeler PG, Smith R
Clin Genet 2001 Jan;59(1):25-7. doi: 10.1034/j.1399-0004.2001.590104.x. PMID: 11168021

Prognosis

Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ
J Bone Miner Metab 2016 Sep;34(5):599-603. Epub 2015 Aug 15 doi: 10.1007/s00774-015-0693-z. PMID: 26275437
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894

Clinical prediction guides

Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ
J Bone Miner Metab 2016 Sep;34(5):599-603. Epub 2015 Aug 15 doi: 10.1007/s00774-015-0693-z. PMID: 26275437
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894

Supplemental Content

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