Zespół Curry'ego i Jonesa

Kod Orpha: 1553Kod OMIM: 601707

Definicja

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

Dane
Klasyfikacja

Zespół wad wrodzonych

Synonimy
Corpus callosum agenesis-polysyndactyly syndrome
Agnezja ciała modzelowatego - polisyndaktylia
Kod ORPHA
1553
Kod OMIM
601707
Kod ICD10
Q87.0
Kod ICD11
-

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