chondrodysplasia punctata, Toriello type
http://purl.obolibrary.org/obo/MONDO_0008973
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 ]
Term info
- OMIM:215105 (Orphanet:79347/e)
- Orphanet:79347 (OMIM:215105)
- MESH:C565853 (MONDO:equivalentTo)
- SCTID:715631005 (MONDO:equivalentTo)
ordo_malformation_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.
http://identifiers.org/mesh/C565853, https://omim.org/entry/215105, http://identifiers.org/snomedct/715631005, http://purl.obolibrary.org/obo/Orphanet_79347
Toriello-Higgins-Miller syndrome
chondrodysplasia punctata syndrome
MONDO:0008973