Disease - Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome
Definition
A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.
Acronym
CFSMR
Synonyms
Cerebrofaciothoracic dysplasia
Cerebro-facio-thoracic dysplasia
TMCO1 defect syndrome
Cerebro-facio-thoracic dysplasia
TMCO1 defect syndrome
Keywords
Disclaimer
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