Craniosynostosis and dental anomalies
Other namesCRSDA
Kreiborg-Pakistani syndrome
Autosomal recessive inheritance
SpecialtyMedical 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]

Signs and symptoms

Features of this condition include, by area affected:[1][3]

Causes

CRSDA is caused by homozygous or compound heterozygous mutations on the IL11RA gene in the short arm of chromosome 9.[1][3]

See also

References

  1. 1 2 3 "Craniosynostosis and dental anomalies (Concept Id: C3280073)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.
  2. "#614188 - CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA". www.omim.org. Retrieved 2023-09-14.
  3. 1 2 3 "Craniosynostosis and dental anomalies - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.
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