Overview
Cardiospondylocarpofacial 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.
Bilateral congenital sensorineural deafness
Always present (100%)HP:0008527
Bulbous nasal tip
Always present (100%)HP:0000414
Chubby cheeks
Always present (100%)HP:0000293
Decreased body height
Always present (100%)HP:0004322
Decreased testicular size
Always present (100%)HP:0008734
Delayed gastric emptying
Always present (100%)HP:0002578
Eyelid ptosis
Always present (100%)HP:0000508
Feeding difficulties
Always present (100%)HP:0011968
Fullness around the eyes
Always present (100%)HP:0000629
Fused neck
Always present (100%)HP:0002949
Grey sclerae
Always present (100%)HP:0000592
Herniation of intervertebral nuclei
Always present (100%)HP:0008441
Hypotrophic nasal tip
Always present (100%)HP:0005278
Increased width of bridge of nose
Always present (100%)HP:0000431
Large mouth
Always present (100%)HP:0000154
Less than 10 fetal movements in 12 hours
Always present (100%)HP:0001558
Loose-jointedness
Always present (100%)HP:0001382
Low-set ears
Always present (100%)HP:0000369
Muscular hypotonia
Always present (100%)HP:0001252
Muscular ventricular septal defect
Always present (100%)HP:0011623
Palpebronasal fold
Always present (100%)HP:0000286
PFO
Always present (100%)HP:0001655
Postnatal failure to thrive
Always present (100%)HP:0001508
Soft skin
Always present (100%)HP:0000977
Tricuspid valve dysplasia
Always present (100%)HP:0030732
Underdeveloped aortic arch
Always present (100%)HP:0012304
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Brachydactyly
Very frequent (80-99%)HP:0001156
Fused wrist bones
Very frequent (80-99%)HP:0009702
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Related Conditions
Congenital anomaly of skeletal bone(parent)
Autosomal dominant hereditary disorder(parent)
Conductive hearing loss(parent)
Multiple system malformation syndrome(parent)
Small stature(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital insufficiency of mitral valve(parent)
Congenital anomaly of ear with impairment of hearing(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 720612000
- UMLS CUI
- C2931461
- Fully Specified Name
- Cardiospondylocarpofacial 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.