Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aplasia cutis congenita
Always present (100%)HP:0001057
Decreased sexual hair
Always present (100%)HP:0002225
Sparse scalp, axillary, and pubic hair
Always present (100%)HP:0002215
Abnormal antihelix morphology
Very frequent (80-99%)HP:0009738
Anomaly of scalp
Very frequent (80-99%)HP:0001965
Aplasia/Hypoplasia of the nipples
Very frequent (80-99%)HP:0006709
Congenital absence of breast
Very frequent (80-99%)HP:0100783
Dermatopathy
Very frequent (80-99%)HP:0000951
Hypoplastic antitragus
Very frequent (80-99%)HP:0011251
Microtia
Very frequent (80-99%)HP:0008551
Overfolded helix
Very frequent (80-99%)HP:0000396
Small earlobes
Very frequent (80-99%)HP:0000385
Underdeveloped tragus
Very frequent (80-99%)HP:0011272
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Anteverted ears
Frequent (30-79%)HP:0040080
Cataract
Frequent (30-79%)HP:0000518
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Fine hair
Frequent (30-79%)HP:0002213
High blood pressure
Frequent (30-79%)HP:0000822
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Nail dysplasia
Frequent (30-79%)HP:0002164
Partial syndactyly
Frequent (30-79%)HP:0006101
Renal insufficiency
Frequent (30-79%)HP:0000083
Repeated bladder infections
Frequent (30-79%)HP:0000010
Tooth abnormalities
Frequent (30-79%)HP:0000164
Type I diabetes mellitus
Frequent (30-79%)HP:0100651
Alopecia areata
Occasional (5-29%)HP:0002232
Blepharophimosis
Occasional (5-29%)HP:0000581
Broad thumbs
Occasional (5-29%)HP:0011304
Cardiac myxoma
Occasional (5-29%)HP:0011672
Related Conditions
Ectodermal dysplasia(parent)
Autosomal dominant hereditary disorder(parent)
Disorder of pinna(parent)
Congenital absence of nipple(parent)
Disorder of scalp(parent)
Aplasia of skin(parent)
Congenital abnormality of external ear(parent)
Auditory system hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Disorder of skin of head(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 721888002
- UMLS CUI
- C1867020
- Fully Specified Name
- Scalp, ear, nipple 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.