phocomelias
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phocomelia
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