Overview
Richieri Costa Guion Almeida Ramos 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.
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormal pubic bone morphology
Very frequent (80-99%)HP:0003172
Abnormalities of the fingers
Very frequent (80-99%)HP:0001167
Abnormality of the thumbs
Very frequent (80-99%)HP:0001172
Abnormality of the wrist
Very frequent (80-99%)HP:0003019
Anomaly of the zygomatic bone
Very frequent (80-99%)HP:0010668
Bilateral single transverse palmar creases
Very frequent (80-99%)HP:0007598
Brachydactyly
Very frequent (80-99%)HP:0001156
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Dull intelligence
Very frequent (80-99%)HP:0001249
Ear anomaly
Very frequent (80-99%)HP:0000598
Enlarged mandible
Very frequent (80-99%)HP:0000303
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Flat back of skull
Very frequent (80-99%)HP:0005469
Hearing abnormality
Very frequent (80-99%)HP:0000364
Hypoplasia of supraorbital margins
Very frequent (80-99%)HP:0009891
Large iliac wings
Very frequent (80-99%)HP:0008818
Ocular hypotelorism
Very frequent (80-99%)HP:0000601
Pectus excavatum
Very frequent (80-99%)HP:0000767
Pinched nasal bridge
Very frequent (80-99%)HP:0000446
Shagreen patch
Very frequent (80-99%)HP:0009721
Short palm
Very frequent (80-99%)HP:0004279
Short stature, severe
Very frequent (80-99%)HP:0003510
Specific learning disability
Very frequent (80-99%)HP:0001328
Squint
Very frequent (80-99%)HP:0000486
Thin face
Very frequent (80-99%)HP:0000275
Unilateral cheiloschisis
Very frequent (80-99%)HP:0100333
Related Conditions
Congenital anomaly of skull(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Cleft lip(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital ptosis(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 723403008
- UMLS CUI
- C4518461
- Fully Specified Name
- Microbrachycephaly, ptosis, cleft lip 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.