Robinow syndrome (Q87099): Difference between revisions
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A síndrome de Robinow é uma síndrome genética rara caracterizada por encurtamento dos membros e anormalidades da cabeça, face e genitália externa. Duas formas da síndrome com diferentes padrões de herança e frequência variável de sinais clínicos foram descritas: uma forma autossômica dominante mais branda (síndrome de Robinow autossômica dominante) e uma forma autossômica recessiva mais grave (síndrome de Robinow autossômica recessiva). | |||
| description / en | description / en | ||
Robinow syndrome is a rare genetic syndrome characterised by limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome). | |||
Revision as of 12:40, 15 August 2026
Robinow syndrome is a rare genetic syndrome characterised by limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1010745722 |
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| English | Robinow syndrome |
Robinow syndrome is a rare genetic syndrome characterised by limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome). |
