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Ulna metaphyseal dysplasia syndrome

MedGen UID:
348149
Concept ID:
C1860615
Disease or Syndrome
Synonyms: Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna; METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE; Metaphyseal chondroplasia Rosenberg type; Rosenberg Lohr syndrome
SNOMED CT: Ulna metaphyseal dysplasia syndrome (715242008); Rosenberg-Lohr syndrome (715242008)
 
Monarch Initiative: MONDO:0008619
OMIM®: 191420
Orphanet: ORPHA1837

Definition

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. [from ORDO]

Clinical features

From HPO
Wrist pain
MedGen UID:
66384
Concept ID:
C0221785
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
An abnormally increased calcium concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUlna metaphyseal dysplasia syndrome
Follow this link to review classifications for Ulna metaphyseal dysplasia syndrome in Orphanet.

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