Overview
Clinical overview and emergency guidance are pending physician authorship. Graph-derived data (ontology codes, linked conditions, diagnostic biomarkers) is available below.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Pyruvate dehydrogenase complex deficiency
Robinow syndrome
Occasional (5-29%)
Deficiency of pyruvic decarboxylase
Pitt-Hopkins syndrome
Always present (100%)
Anophthalmos with limb anomalies
Shprintzen Goldberg omphalocele syndrome
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
Occasional (5-29%)
Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome
Frequent (30-79%)
Xp22.13p22.2 duplication syndrome
Very frequent (80-99%)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
Occasional (5-29%)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
Occasional (5-29%)
WITKOS - Witteveen Kolk syndrome
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
Occasional (5-29%)
Sepsis of premature infant
Occasional (5-29%)
Quick Facts
- SNOMED CT
- 21558008
- UMLS CUI
- C0277873
- Fully Specified Name
- Flaring of alae nasi (finding)
- Associated Conditions
- 14
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.