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.

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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).

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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.

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Abnormality of the vertebral column