has characteristic has characteristic Autosomal dominant inheritance autosomal dominant disease autosomal dominant Kenny-Caffey syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/9527 https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 https://www.malacards.org/card/autosomal_dominant_kenny_caffey_syndrome https://www.malacards.org/card/kenny_caffey_syndrome_type_2_2 UMLS:C4316787 DOID:0080723 NCIT:C130993 dwarfism, cortical thickening of tubular bones and transient hypocalcemia MONDO:0007478 Kenny-Caffey syndrome, type 2 Orphanet:93325 OMIM:127000 MEDGEN:1373312 Kenny-Caffey syndrome, autosomal dominant An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. KCS2 Kenny-Caffey syndrome type 2 GARD:0000083 Kenny-Caffey syndrome FAM111A-related skeletal dysplasia