| 词条 | Microcephaly lymphoedema chorioretinal dysplasia |
| 释义 |
| name = Microcephaly lymphoedema chorioretinal dysplasia | synonyms = MLCRD syndrome | image = | alt = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Microcephaly lymphoedema chorioretinal dysplasia is a genetic condition associated with:
In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity. Since then there have been further reports of children with these three features (Angle et al. 1994, Fryns et al. 1995, Limwongse et al. 1999, Casteels et al. 2001) Children have also been seen with two of the above features:
PresentationThe distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears (Vasudevan 2005) GeneticsThe former (microcephaly and lymphoedema) has been described as an autosomal dominant (MIM 156590) or X-linked trait, while the latter (microcephaly and chorioretinal dysplasia) has been described as autosomal dominant, autosomal recessive (MIM 251270 or Mirhosseini-Holmes-Walton syndrome) or X-linked trait. Diagnosis{{Empty section|date=March 2019}}References
External links{{Medical resources| ICD10 = Q87.8 | ICD9 = | ICDO = | OMIM = 152950 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = C537711 | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 2526 }} 1 : Genetic diseases and disorders |
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