| Metadata | |
|---|---|
| ID | DOID:0081072 |
| Name | craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
| Definition | A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/, https://pubmed.ncbi.nlm.nih.gov/20018682/, https://pubmed.ncbi.nlm.nih.gov/24194475/, https://pubmed.ncbi.nlm.nih.gov/30556256/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Cerebro-facio-thoracic dysplasia [EXACT] Cerebrofaciothoracic dysplasia [EXACT] Pascual-Castroviejo syndrome [EXACT] TMCO1 defect syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |