Overview
Temtamy preaxial brachydactyly 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.
Curvature of digit
Always present (100%)HP:0030084
Hitchhiker thumb
Always present (100%)HP:0001234
Syndactyly
Always present (100%)HP:0001159
Abnormality of digit
Very frequent (80-99%)HP:0011297
Duplication of phalanx of thumb
Very frequent (80-99%)HP:0009942
Bifid thumb
Frequent (30-79%)HP:0009944
Brachydactyly
Frequent (30-79%)HP:0001156
Complete duplication of the innermost bone of the thumb
Frequent (30-79%)HP:0009608
Complete duplication of the middle phalanx of the 3rd finger
Frequent (30-79%)HP:0009966
Dental anomalies
Frequent (30-79%)HP:0000164
Diastema between maxillary central incisors
Frequent (30-79%)HP:0001566
Distortion of face
Frequent (30-79%)HP:0001999
Extra cusp on inside of front tooth
Frequent (30-79%)HP:0011087
Fused innermost hinge joints
Frequent (30-79%)HP:0006152
Large eyes
Frequent (30-79%)HP:0001090
Mental deficiency
Frequent (30-79%)HP:0001249
Missing between one and six teeth
Frequent (30-79%)HP:0000668
Partial duplication of the proximal bone of the middle finger
Frequent (30-79%)HP:0009970
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Severe sensorineural deafness
Frequent (30-79%)HP:0008625
Synostosis of carpals/tarsals
Frequent (30-79%)HP:0100266
Very poor growth
Frequent (30-79%)HP:0001510
Abnormal optic disc morphology
Occasional (5-29%)HP:0012795
Abnormal spaced incisors
Occasional (5-29%)HP:0040159
Abnormality of canine
Occasional (5-29%)HP:0011078
Cleft of palate
Occasional (5-29%)HP:0000175
Clinodactyly of the 2nd finger
Occasional (5-29%)HP:0040022
Curvature of little finger
Occasional (5-29%)HP:0004209
Decreased body height
Occasional (5-29%)HP:0004322
Decreased projection of lower jaw
Occasional (5-29%)HP:0000347
Related Conditions
Disorder of glycoprotein metabolism(parent)
Congenital sensorineural hearing loss(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Metabolic bone disease(parent)
Brachydactyly(parent)
Congenital anomaly of tooth(parent)
Dysostosis(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Genetic intellectual disability(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 777998000
- UMLS CUI
- C1854466
- Fully Specified Name
- Temtamy preaxial brachydactyly 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.