Acromesomelic dysplasia, Grebe type

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.7%)		 26275437
 Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ.
J Bone Miner Metab. 2016;34(5):599-603.
Micromelia
GDF5
p|SUB|R|377|W;RS#:770941419
Amino Acid Motifs Child, Preschool Females Homo sapiens Male Osteochondrodysplasias Protein Precursors
1
(45.7%)		 9288098
 Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP.
Nat Genet. 1997;17(1):58-64.
Severe limb shortening
BMP1
rs74315387
Amino Acid Sequence Animals Base Sequence Bone Morphogenetic Proteins COS Cells Congenital Hand Deformities Conserved Sequence Dwarfism Females Fingers Genes, Dominant Genes, Recessive Growth Substances Heterozygote Homo sapiens Male Morphogenesis Osteochondrodysplasias Point Mutation Recombinant Proteins Transfection
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0001831 Short toe Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0008368 Tarsal synostosis Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0100242 Sarcoma Very frequent (99-80%)
HP:0100387 Aplasia of the middle phalanges of the toes Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Frequent (79-30%)
HP:0003038 Fibular hypoplasia Frequent (79-30%)
HP:0005736 Short tibia Frequent (79-30%)
HP:0009601 Aplasia/Hypoplasia of the thumb Frequent (79-30%)
HP:0001522 Death in infancy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002983 Micromelia 1
HP:0200083 Severe limb shortening 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
BMPR1B bone morphogenetic protein receptor type 1B 658
GDF5 growth differentiation factor 5 8200