Omodysplasia (Q87104): Difference between revisions
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| description / pt-br | description / pt-br | ||
Omodisplasia é uma displasia esquelética rara caracterizada por encurtamento grave dos membros e dismorfismo facial. Dois tipos de omodisplasia foram descritos: uma forma autossômica recessiva ou generalizada (também conhecida como displasia micromélica com deslocamento do rádio) marcada por nanismo micromélico grave com encurtamento predominantemente rizomélico de ambos os membros superiores e inferiores, e uma forma autossômica dominante na qual a estatura é normal e o encurtamento se limita aos membros superiores. | |||
| description / en | description / en | ||
Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. | |||
Revision as of 12:40, 15 August 2026
Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1081897527 |
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| English | Omodysplasia |
Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
