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Start free with EleplanMetaphyseal dysplasia, Braun-Tinschert type
ORPHA:85188Malformation syndrome
What it is
Metaphyseal dysplasia, Braun-Tinschert type is characterised by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
Key facts
- Age of onset
- Infancy, Neonatal
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
28- Advanced pneumatization of cranial sinuses
- Bipartite patella
- Broad femoral head
- Broad femoral neck
- Broad long bones
- Broad radial metaphysis
- Broad tibial metaphyses
- Deformed humerus
- Elevated alkaline phosphatase of bone origin
- Exostoses of the radius
- Exostoses of the ulna
- Fibular bowing
- Flared femoral metaphysis
- Humerus varus
- Hypoplasia of the ulna
- Increased bone mineral density
- Increased urinary type 1 collagen N-terminal telopeptide level
- Radial bowing
- Rough bone trabeculation
- Sclerosis of middle finger phalanx
- Sclerosis of proximal finger phalanx
- Skeletal dysplasia
- Thin bony cortex
- Tibial bowing
- Ulnar bowing
- Upper limb metaphyseal widening
- Wide distal femoral metaphysis
- Wide proximal femoral metaphysis
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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