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Limbs hypoplasia

DA: 676




Developmental anomaly information

Definition: Abnormal shortness of the limbs. Shortening of the extremities can involve the entire limb (micromelia, such as achondrogenesis, short-rib polydactyly syndrome, diastrophic dysplasia osteogenesis imperfecta type II), the proximal segment (rhizomelia, such as achondroplasia), the intermediate segment (mesomelia, such as mesomelic dysplasia) or the distal segment (acromelia, such as Ellis–Van Creveld syndrome). The diagnosis of rhizomelia or mesomelia requires comparison of the dimensions of the bones of the leg and forearm with those of the thigh and arm. The femur, however, is abnormally short even in mesomelic dwarfism.


Synonyms:

  • Reduction defect of limbs
  • Shortening of the limbs


Developmental anomaly parent: (empty)

Topology: Human body > Limbs

System: Human body > musculoskeletal system.

Developmental anomaly category: Anomaly of underdevelopment or overdevelopment

Case records MDB106, MDB278, MDB172, MDB471, MDB474, MDB483, MDB44, MDB540, MDB50, MDB108, MDB274
Links
Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :



Last modified: 2008-12-19 17:45:09 by farideh

Created: 2008-09-09 15:51:51 by farideh



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