chondrodysplasia punctata, Toriello type https://www.malacards.org/card/chondrodysplasia_punctata_syndrome https://www.malacards.org/card/chondrodysplasia_punctata_toriello_type UMLS:C1859132 MONDO:0008973 Toriello-Higgins-Miller syndrome Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Orphanet:79347 SCTID:715631005 GARD:0016716 MEDGEN:347071 MESH:C565853 OMIM:215105 icd11.foundation:1167798993 non-rhizomelic chondrodysplasia punctata