phocomelias

Definition: In phocomelia, the hands are present but an intervening segment of the extremity is missing (arm and/or forearm). The hand is normal or not. One, two, three, or all limbs can be affected.

Etiology

 isolated phocomelia

• spontaneous sporadic phocomelia
• fetal thalidomide exposition
• DK phocomelia syndrome (MIM.223340)
• SC phocomelia syndrome (MIM.269000) (ESCO2 mutations)
• X-linked tetra-amelia (MIM.301090)
• autosomal recessive tetra-amelia (MIM.273395) (17q21)

 syndromal phocomelia

• Roberts syndrome (MIM.268300) (ESCO2 mutations at 8p21.1)
• TAR syndrome (thrombocytopenia Absent Radius)
• Grebe syndrome
  • autosomal recessive, marked hypomelia more severe in the lower limbs, and increasing in severity distally

• absence of ulna and fibula with severe limb deficiency (Schinzel phocomelia syndrome) (MIM.276820)
• phocomelia-ectrodactyly, ear malformation, deafness and sinus arrhytmia (MIM.171480)
• renal dysplasia-limb defects syndrome (MIM.266910)
• Steinfeld syndrome (MIM.184705)
• Cornelia de Lange syndrome (MIM.122470) (5p13.1)
• microgastria-limb reduction defects association (MIM.156810) (MLRD syndrome)
• tetraphocomelia-absent radius syndrome (MIM.274000)
• Schinzel-Giedion syndrome (MIM.269150)
• association phocomelia, ectrodactyly, skull defect and urinary system anomaly (8740915)

Case records

 Case 11247: Tetraphocomelia and bilateral renal agenesis