Cardiocranial syndrome, Pfeiffer type (Q94134): Difference between revisions
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Síndrome cardiocraniana do tipo Pfeiffer é um transtorno extremamente raro caracterizado por um defeito cardíaco congênito, craniossinostose sagital e grave atraso no desenvolvimento (retardo de crescimento e déficit intelectual). Anomalias genitais e renais e várias características dismórficas (hipertelorismo, ouvidos de implantação baixa, ouvidos displásicas, micrognatia, anquilose mandibular, sindactilia) podem estar presentes. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder characterised by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). Genital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/629231429 / rank | |||||||||||||||
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CID11:ID_629231429 | |||||||||||||||
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dki-india-ID_629231429 | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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Latest revision as of 09:15, 16 August 2026
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder characterised by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). Genital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present.
| Language | Label | Description | Also known as |
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| default for all languages | ID_629231429 |
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| English | Cardiocranial syndrome, Pfeiffer type |
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder characterised by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). Genital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. |
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CID11:ID_629231429
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dki-india-ID_629231429
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Concluído
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15 August 2026
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