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Mesomelic dwarfism of hypoplastic tibia and radius type

MedGen UID:
322550
Concept ID:
C1835010
Disease or Syndrome
Synonym: Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
 
Monarch Initiative: MONDO:0007976
OMIM®: 156230

Clinical features

From HPO
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Neonatal short-limb short stature
MedGen UID:
337984
Concept ID:
C1850171
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Mesomelic short stature
MedGen UID:
340834
Concept ID:
C1855274
Finding
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Pseudoarthrosis
MedGen UID:
46175
Concept ID:
C0033785
Finding
A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").

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