Craniosynostosis and dental anomalies | |
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Other names | CRSDA Kreiborg-Pakistani syndrome |
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Autosomal recessive inheritance | |
Specialty | Medical genetics |
Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Syndactyly, clinodactyly, and other digit anomalies may also be present. [1] [2] [3]
Features of this condition include, by area affected: [1] [3]
CRSDA is caused by homozygous or compound heterozygous mutations on the IL11RA gene in the short arm of chromosome 9. [1] [3]
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