Overview
Otopalatodigital syndrome spectrum disorder 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.
Cleft of palate
Always present (100%)HP:0000175
Bowed femura
Frequent (30-79%)HP:0002980
Decreased body height
Occasional (5-29%)HP:0004322
Abnormality of the fifth metatarsal bone
HP:0008089
Absence of a tooth
HP:0001592
Accessory carpal bones
HP:0004232
Aplasia of frontal sinus
HP:0002688
Bipartite calcaneus
HP:0008127
Broad big toe
HP:0010055
Broad distal phalanx of finger
HP:0009836
Broad distal phalanx of the thumb
HP:0009642
Bulbous tips of toes
HP:0001782
Dislocated femoral heads
HP:0002827
Distal phalangeal hypoplasia
HP:0009882
Down-slanting palpebral fissure
HP:0000494
Dystrophic nails
HP:0008404
Flat facial shape
HP:0012368
Frontal protuberance
HP:0002007
Fusion of hamate and capitate
HP:0001241
Fusion of wrist bones
HP:0005048
Hearing loss, conductive
HP:0000405
Hypoplastic fourth metacarpal
HP:0010044
Impacted teeth
HP:0001571
Increased distance between eyes
HP:0000316
Increased thickness of skull base
HP:0002737
Increased width of bridge of nose
HP:0000431
Lateral femoral bowing
HP:0005090
Limited forearm extension
HP:0001377
Limited knee flexion
HP:0006389
Mental retardation, mild
HP:0001256
Related Conditions
Frontometaphyseal dysplasia(child)
Terminal osseous dysplasia and pigmentary defect syndrome(child)
Oto-palato-digital syndrome, type I(child)
Oto-palato-digital syndrome, type II(child)
Melnick-Needles syndrome(child)
Skeletal dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
X-linked dominant hereditary disease(parent)
Quick Facts
- SNOMED CT
- 784010006
- UMLS CUI
- C2748918
- Fully Specified Name
- Otopalatodigital syndrome spectrum disorder (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.