Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad flat nasal bridge
Always present (100%)HP:0000431
Central hypotonia
Always present (100%)HP:0001252
Dropped arches
Always present (100%)HP:0001763
Feeding difficulties
Always present (100%)HP:0011968
Flat facial shape
Always present (100%)HP:0012368
Gait disturbance
Always present (100%)HP:0001288
Gum enlargement
Always present (100%)HP:0000212
High arched palate
Always present (100%)HP:0000218
Increased length of eyelashes
Always present (100%)HP:0000527
Low anterior hairline
Always present (100%)HP:0000294
Low-set ears
Always present (100%)HP:0000369
Microdontia of deciduous teeth
Always present (100%)HP:0006347
Nostrils anteverted
Always present (100%)HP:0000463
Thick, flared eyebrows
Always present (100%)HP:0002553
Cleft ribs
Very frequent (80-99%)HP:0000892
Hemivertebra
Very frequent (80-99%)HP:0002937
Hypoplasia of corpus callosum
Very frequent (80-99%)HP:0002079
Hyporeflexia
Very frequent (80-99%)HP:0001265
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Large mouth
Very frequent (80-99%)HP:0000154
Low chest circumference
Very frequent (80-99%)HP:0000774
Low intelligence
Very frequent (80-99%)HP:0001249
Pectus excavatum
Very frequent (80-99%)HP:0000767
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Recurrent sinus infections
Very frequent (80-99%)HP:0011108
Rib fusion
Very frequent (80-99%)HP:0000902
Short and broad skull
Very frequent (80-99%)HP:0000248
Short neck
Very frequent (80-99%)HP:0000470
Small midface
Very frequent (80-99%)HP:0011800
Thick eyebrow
Very frequent (80-99%)HP:0000574
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Dysostosis(parent)
Congenital anomaly of rib(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Spinal dysplasia(parent)
Congenital thoracic dysplasia(parent)
Quick Facts
- SNOMED CT
- 720635002
- UMLS CUI
- C1859252
- Fully Specified Name
- Cerebro-facio-thoracic dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.