Fraser syndrome (Q46730): Difference between revisions
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A síndrome de Fraser é uma síndrome rara caracterizada por criptoftalmia e sindactilia e associada a uma ampla variedade de outras anomalias, incluindo: malformações do ouvido médio e externo; palato alto arqueado; clivagem ao longo do plano médio das narinas e da língua; hipertelorismo; estenose laríngea; ampla separação da sínfise púbica; deslocamento do umbigo e mamilos; rins ausentes ou multicísticos; útero bicorno, tubas uterinas malformadas, fusão dos lábios vulvares e aumento do clitóris em meninas; e testículos não descidos e pênis pequeno com hipospádia em meninos. | |||
| description / en | description / en | ||
Fraser syndrome is a rare syndrome characterised by cryptophthalmos and syndactyly and associated with a wide variety of other anomalies including: middle and outer ear malformations; high-arched palate; cleavage along the midplane of nares and tongue; hypertelorism; laryngeal stenosis; wide separation of symphysis pubis; displacement of umbilicus and nipples; absent or multicystic kidneys; bicornuate uterus, malformed Fallopian tubes, fusion of labia and enlargement of clitoris in girls; and undescended testes and small penis with hypospadias in boys. | |||
Revision as of 15:31, 13 August 2026
Fraser syndrome is a rare syndrome characterised by cryptophthalmos and syndactyly and associated with a wide variety of other anomalies including: middle and outer ear malformations; high-arched palate; cleavage along the midplane of nares and tongue; hypertelorism; laryngeal stenosis; wide separation of symphysis pubis; displacement of umbilicus and nipples; absent or multicystic kidneys; bicornuate uterus, malformed Fallopian tubes, fusion of labia and enlargement of clitoris in girls; and undescended testes and small penis with hypospadias in boys.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2H.0 |
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| English | Fraser syndrome |
Fraser syndrome is a rare syndrome characterised by cryptophthalmos and syndactyly and associated with a wide variety of other anomalies including: middle and outer ear malformations; high-arched palate; cleavage along the midplane of nares and tongue; hypertelorism; laryngeal stenosis; wide separation of symphysis pubis; displacement of umbilicus and nipples; absent or multicystic kidneys; bicornuate uterus, malformed Fallopian tubes, fusion of labia and enlargement of clitoris in girls; and undescended testes and small penis with hypospadias in boys. |
