Overview
Camptodactyly syndrome Guadalajara type 1 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 vertebral bodies
Very frequent (80-99%)HP:0003312
Angle class 2 malocclusion
Very frequent (80-99%)HP:0000689
Attached earlobe
Very frequent (80-99%)HP:0009907
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Disorder of tooth eruption
Very frequent (80-99%)HP:0006292
Flat facial shape
Very frequent (80-99%)HP:0012368
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Microtia
Very frequent (80-99%)HP:0008551
Open bite
Very frequent (80-99%)HP:0010807
Pectus carinatum
Very frequent (80-99%)HP:0000768
Pectus excavatum
Very frequent (80-99%)HP:0000767
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Brachydactyly
Frequent (30-79%)HP:0001156
Bunion
Frequent (30-79%)HP:0001822
Cognitive delay
Frequent (30-79%)HP:0001263
Cornea of eye less than 10mm in diameter
Frequent (30-79%)HP:0000482
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Decreased transverse dimension of face
Frequent (30-79%)HP:0000275
Delayed skeletal development
Frequent (30-79%)HP:0002750
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Epilepsy
Frequent (30-79%)HP:0001250
High arched palate
Frequent (30-79%)HP:0000218
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Low chest circumference
Frequent (30-79%)HP:0000774
Narrow mouth
Frequent (30-79%)HP:0000160
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Nevocellular nevi
Frequent (30-79%)HP:0000995
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Camptodactyly(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of finger(parent)
Developmental hereditary disorder(parent)
Congenital deformity of hand(parent)
Quick Facts
- SNOMED CT
- 720602007
- UMLS CUI
- C1859359
- Fully Specified Name
- Camptodactyly syndrome Guadalajara type 1 (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.