Overview
Cerebrofacioarticular 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.
Feeding difficulties
Always present (100%)HP:0011968
Peripheral hypotonia
Always present (100%)HP:0001252
Periventricular nodular heterotopia
Always present (100%)HP:0032388
Sensorineural deafness
Always present (100%)HP:0000407
Wider-than-typical soft spot of skull
Always present (100%)HP:0000260
Camptodactyly
Very frequent (80-99%)HP:0012385
Distortion of face
Very frequent (80-99%)HP:0001999
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Hypotonia, early
Very frequent (80-99%)HP:0008947
Microtia
Very frequent (80-99%)HP:0008551
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Gastrostomy tube feeding in infancy
Frequent (30-79%)HP:0011471
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Large fontanelle
Frequent (30-79%)HP:0000239
Low chest circumference
Frequent (30-79%)HP:0000774
Moderate mental retardation
Frequent (30-79%)HP:0002342
Osteopenia
Frequent (30-79%)HP:0000938
Radial-head subluxation
Frequent (30-79%)HP:0003048
Short clavicles
Frequent (30-79%)HP:0000894
Small kidneys
Frequent (30-79%)HP:0000089
Syndactyly
Frequent (30-79%)HP:0001159
Tracheal disease
Frequent (30-79%)HP:0002778
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Absence of pubertal development
Occasional (5-29%)HP:0008197
Anteriorly displaced anus
Occasional (5-29%)HP:0001545
Ataxia
Occasional (5-29%)HP:0001251
Autoagression
Occasional (5-29%)HP:0100716
Bilateral choanal atresia/stenosis
Occasional (5-29%)HP:0200138
Blepharophimosis
Occasional (5-29%)HP:0000581
Related Conditions
Congenital anomaly of skeletal bone(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 763353000
- UMLS CUI
- C1832390
- Fully Specified Name
- Cerebrofacioarticular 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.