Johnson–McMillin syndrome
MeSH: C535882ORPHA: 2316
Overview
Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Johnson–McMillin syndrome, sourced from HPO and Orphanet clinical annotations.
HypogonadismConductive hearing impairmentAtresia of the external auditory canalAlopeciaSparse hairFacial asymmetryProtruding earAbsent eyelashesCarious teethIntellectual disabilityAbsent eyebrowSevere short statureMicrotiaFacial palsyCleft palateEverted lower lip vermilionMicrocephalyBulbous noseChoanal atresiaAnosmiaDownslanted palpebral fissuresHypohidrosisHand polydactylyPreaxial hand polydactylyFailure to thriveTetralogy of FallotMultiple cafe-au-lait spots
Classification & Codes
MeSH Code
C535882Orphanet Code
ORPHA:2316Johnson–McMillin syndrome
| MeSH | C535882 |
| Orphanet | ORPHA:2316 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO