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Jansen type metaphyseal chondrodysplasia
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Jansen type metaphyseal chondrodysplasia

Other Resources UpToDate PubMed

Synopsis

Very rare progressive disease caused by impaired metaphyseal ossification (delayed chondrocyte differentiation), particularly of long bones. Patients have short limbs and stature, hypercalcemia, and hypophosphatemia with low or normal parathyroid hormone. Onset at birth or discovered in infancy during bone scans. Autosomal dominant inherited disorder that may present with joint, leg, hand, and facial dysmorphology, including clubbed fingers, clinodactyly, bowed legs, contractures of the joints, waddling gait, prominent forehead, and small mandible. Other signs and symptoms include hypertelorism, joint stiffness / swelling, sclerotic bones, and high-arched palate. Feeding difficulties, vomiting, and dehydration not uncommon in infants.

Managing hypercalciuria and monitoring for cardiovascular disease are the primary treatments available.

Codes

ICD10CM:
Q79.9 – Congenital malformation of musculoskeletal system, unspecified

SNOMEDCT:
24629003 – Metaphyseal chondrodysplasia, Jansen type

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Last Updated:01/17/2022
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Jansen type metaphyseal chondrodysplasia
A medical illustration showing key findings of Jansen type metaphyseal chondrodysplasia (Adult) : Hypophosphatemia, Micrognathia, Short stature, Ca elevated
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