Overview
Craniofaciofrontodigital syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypertrichosis
Very frequent (80-99%)HP:0000998
Hypertrichosis universalis
Very frequent (80-99%)HP:0004540
Thick hair
Very frequent (80-99%)HP:0100874
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Central hypotonia
Frequent (30-79%)HP:0001252
Concave bridge of nose
Frequent (30-79%)HP:0005280
Difficulty breathing
Frequent (30-79%)HP:0002094
Furrowed palms and soles
Frequent (30-79%)HP:0007517
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Headache
Frequent (30-79%)HP:0002315
Hydramnios
Frequent (30-79%)HP:0001561
Hyperintensity of cerebral white matter on MRI
Frequent (30-79%)HP:0030890
Increased heart size
Frequent (30-79%)HP:0001640
Increased length of philtrum
Frequent (30-79%)HP:0000343
Intermittent migraine headaches
Frequent (30-79%)HP:0002076
Laboured breathing
Frequent (30-79%)HP:0002098
Loose skin
Frequent (30-79%)HP:0000973
Loose-jointedness
Frequent (30-79%)HP:0001382
Mental and motor retardation
Frequent (30-79%)HP:0001263
PDA
Frequent (30-79%)HP:0001643
Pericardial effusions
Frequent (30-79%)HP:0001698
Poor exercise tolerance
Frequent (30-79%)HP:0003546
Premature birth
Frequent (30-79%)HP:0001622
Premature skin wrinkling
Frequent (30-79%)HP:0100678
Prominent veins
Frequent (30-79%)HP:0001015
Seizures
Frequent (30-79%)HP:0001250
Soft tissue swelling
Frequent (30-79%)HP:0000969
Abnormal heart rate
Occasional (5-29%)HP:0011675
Abnormal skeletal development
Occasional (5-29%)HP:0002652
Abnormality of the cerebral blood vessels
Occasional (5-29%)HP:0100659
Related Conditions
Metabolic bone disease(parent)
Cutis laxa(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Dysostosis of bone of skull(parent)
Congenital anomaly of skin(parent)
Small stature(parent)
Musculoskeletal and connective tissue disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 763320005
- UMLS CUI
- C2676032
- Fully Specified Name
- Craniofaciofrontodigital syndrome (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.