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Aplasia/Hypoplasia of the tarsal bones

MedGen UID:
376414
Concept ID:
C1848671
Finding
Synonym: Aplastic/hypoplastic tarsals
 
HPO: HP:0008363

Definition

Absence or underdevelopment of the tarsal bones. [from HPO]

Conditions with this feature

Schinzel phocomelia syndrome
MedGen UID:
336388
Concept ID:
C1848651
Disease or Syndrome
The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).

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