Overview
Rolland-Debuqois 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.
Abnormality of lens position
HP:0001083
Accelerated wrist bone maturation
HP:0004233
Bifid skull
HP:0002084
Bowed long bones
HP:0006487
Camptodactyly
HP:0012385
Cleft of palate
HP:0000175
Completely dislocated lens
HP:0012019
Contractures of the hands
HP:0009473
Equinovarus deformity
HP:0008110
Flat facial shape
HP:0012368
Glaucoma
HP:0000501
Hirsutism
HP:0001007
Hypoplastic mandible condyle
HP:0000347
Limitation of joint mobility
HP:0001376
Low chest circumference
HP:0000774
Micromelia
HP:0002983
Narrow sciatic notches
HP:0003375
Neonatal short-limbed dwarfism
HP:0008921
Nonsyndromal hydrocephalus
HP:0000238
Round facies
HP:0000311
Shallow eye sockets
HP:0000586
Short neck
HP:0000470
Short ribs
HP:0000773
Short stature, severe
HP:0003510
shortened long tubular bones
HP:0003026
Small midface
HP:0011800
Thumb-in-palm pattern
HP:0001181
Widened long bones
HP:0005622
Widened metaphyses
HP:0003016
Zygomatic flattening
HP:0000272
Quick Facts
- SNOMED CT
- 95243004
- UMLS CUI
- C0432209
- Fully Specified Name
- Rolland-Debuqois 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.