Ackerman syndrome
http://purl.obolibrary.org/obo/MONDO_0008706
Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. [ Orphanet:2561 ]
Term info
- OMIM:200970 (Orphanet:2561/e)
- MESH:C538170 (Orphanet:2561/e)
- Orphanet:2561 (OMIM:200970)
- GARD:0000469 (MONDO:equivalentTo)
- UMLS:C1860167 (Orphanet:2561/e)
- SCTID:722280000 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.
http://identifiers.org/snomedct/722280000, http://linkedlifedata.com/resource/umls/id/C1860167, http://identifiers.org/mesh/C538170, https://omim.org/entry/200970, http://purl.obolibrary.org/obo/Orphanet_2561
pyramidal molar-glaucoma-upper abnormal lip syndrome, Ackerman fused molar rooth syndrome, Ackerman syndrome
juvenile glaucoma with unusual upper lip and dental roots, pyramidal molars, glaucoma, abnormal upper lip, glaucoma, juvenile, with unusual upper lip and dental roots, molar roots, pyramidal, with juvenile glaucoma and unusual upper lip
MONDO:0008706
https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome