Johnson neuroectodermal syndrome
MONDO:0007837Mondo
Findings
No curated finding names Johnson neuroectodermal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
Definition from the Mondo Disease Ontology (MONDO:0007837), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Absent eyebrowHPOHP:0002223
- Frequent (30% to 79% of cases)
- Absent eyelashesHPOHP:0000561
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- MicrotiaHPOHP:0008551
- Frequent (30% to 79% of cases)
Show the remaining 15
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- Frequent (30% to 79% of cases)
- AnosmiaHPOHP:0000458
- Occasional (5% to 29% of cases)
- Bulbous noseHPOHP:0000414
- Occasional (5% to 29% of cases)
- Choanal atresiaHPOHP:0000453
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: Johnson neuroectodermal syndrome
- Also called
- alopecia-anosmia-conductive hearing loss-hypogonadism syndromealopecia-anosmia-deafness-hypogonadism syndromeJohnson-McMillin syndrome