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Lenz-Majewski hyperostotic dwarfism
rareLenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
- Identifiers
- MONDO:0007892 OMIM:151050Orphanet:2658
- Causal genes
- PTDSS1
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySkeletal dysplasiaSyndromic disease
- Also known as
- hyperostotic dwarfism Lenz-Majewski type · Lenz Majewski hyperostotic dwarfism · Lenz-Majewski hyperostotic dysplasia · LMHD · multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis
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