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Grebe syndrome(AMD2A)

MedGen UID:
75557
Concept ID:
C0265260
Disease or Syndrome
Synonyms: ACROMESOMELIC DYSPLASIA 2A; Acromesomelic dysplasia, Grebe type; AMD2A; Brazilian achondrogenesis; Chondrodysplasia, Grebe Type; Grebe dysplasia
SNOMED CT: Grebe dysplasia (77542002); Grebe syndrome (77542002); Acromesomelic dysplasia Grebe type (77542002)
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).
 
Gene (location): 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
Short femur
MedGen UID:
87499
Concept ID:
C0345375
Congenital Abnormality
An abnormal shortening of the femur.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Pes valgus
MedGen UID:
299028
Concept ID:
C1578482
Anatomical Abnormality
An outward deviation of the foot at the talocalcaneal or subtalar joint.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
322855
Concept ID:
C1836192
Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Valgus hand deformity
MedGen UID:
348042
Concept ID:
C1860179
Finding
Aplasia/Hypoplasia of metatarsal bones
MedGen UID:
348560
Concept ID:
C1860182
Finding
Absence or underdevelopment of the metatarsal bones.
Hypoplasia of the ulna
MedGen UID:
395934
Concept ID:
C1860614
Congenital Abnormality
Underdevelopment of the ulna.
Acromesomelia
MedGen UID:
350410
Concept ID:
C1864365
Finding
Small hands and feet.
Patella aplasia/hypoplasia
MedGen UID:
358246
Concept ID:
C1868577
Finding
Absence or underdevelopment of the patella.
Short digit
MedGen UID:
893063
Concept ID:
C4023124
Finding
One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Term Hierarchy

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

Recent clinical studies

Diagnosis

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
Jalil J, Shafique M, Ehtesham-ul-Haq
J Coll Physicians Surg Pak 2012 Apr;22(4):261-3. doi: 04.2012/JCPSP.261263. PMID: 22482388
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

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

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