| Metadata | |
|---|---|
| ID | DOID:0080110 |
| Name | contractures, pterygia, and spondylocarpotarsal fusion syndrome |
| Definition | A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. https://www.ncbi.nlm.nih.gov/pubmed/25957469, http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/, https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome, https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
multiple pterygium syndrome [EXACT] |
| Parent Relationships |
is_a monogenic disease is_a syndrome |
| Subclass Logical Relationships |
disease has basis in some gene |