KEGG   DISEASE: Acromicric dysplasia
Entry
H02228                      Disease                                

Name
Acromicric dysplasia
Description
Acromicric dysplasia is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. It has been reported that mutations in FBN1 are responsible for this disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02228  Acromicric dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02228  Acromicric dysplasia
Gene
FBN1 [HSA:2200] [KO:K06825]
Other DBs
ICD-11: LD24.8Y
ICD-10: Q77.8
MeSH: C535662
OMIM: 102370
Reference
  Authors
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V
  Title
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
  Journal
J Med Genet 38:745-9 (2001)
DOI:10.1136/jmg.38.11.745
Reference
  Authors
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V
  Title
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
  Journal
Am J Hum Genet 89:7-14 (2011)
DOI:10.1016/j.ajhg.2011.05.012

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