Cardiocranial syndrome, Pfeiffer type (Q94134)
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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 |
|---|---|---|---|
| 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. |
