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Acromesomelic dysplasia, Maroteaux type
ORPHA:40 · Malformation syndrome · Disorder
HPO 表現型（共 18 項）
Frequent (79-30%)(18)
- Abnormal vertebral body morphologyHP:0003312
- AcromesomeliaHP:0003086
- Beaking of vertebral bodiesHP:0004568
- Bowing of the long bonesHP:0006487
- BrachydactylyHP:0001156
- Depressed nasal bridgeHP:0005280
- Disproportionate short statureHP:0003498
- DolichocephalyHP:0000268
- Frontal bossingHP:0002007
- HyperlordosisHP:0003307
- Joint hypermobilityHP:0001382
- Joint stiffnessHP:0001387
- KyphosisHP:0002808
- Ovoid vertebral bodiesHP:0003300
- Prominent foreheadHP:0011220
- ScoliosisHP:0002650
- Sprengel anomalyHP:0000912
- Vertebral wedgingHP:0008422