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1.

Craniosynostosis and dental anomalies

CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011). [from OMIM]

MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
2.

Absent malleus

Aplasia of the malleus. [from HPO]

MedGen UID:
488922
Concept ID:
C0576900
Finding

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