KEGG   DISEASE: Acrocapitofemoral dysplasia
Entry
H00675                      Disease                                
Name
Acrocapitofemoral dysplasia
Description
Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and hips.
Category
Congenital malformation
Brite
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
    H00675  Acrocapitofemoral dysplasia
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06501  HH signaling
   H00675  Acrocapitofemoral dysplasia
Pathway
hsa04340  Hedgehog signaling pathway
Network
nt06501 HH signaling
Gene
IHH [HSA:3549] [KO:K11989]
Other DBs
ICD-11: LD24.8Y
ICD-10: Q78.8
MeSH: C564334
OMIM: 607778
Reference
PMID:12632327
  Authors
Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR
  Title
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
  Journal
Am J Hum Genet 72:1040-6 (2003)
DOI:10.1086/374318
Reference
PMID:12624140
  Authors
Mortier GR, Kramer PP, Giedion A, Beemer FA
  Title
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.
  Journal
J Med Genet 40:201-7 (2003)
DOI:10.1136/jmg.40.3.201
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