Johnson neuroectodermal syndrome
Synonyms: Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome · Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare neuroectodermal syndrome characterized by hypotrichosis/alopecia, hyposmia/anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism, and a greater than normal tendency to dental caries. Some patients may also present with mild facial asymmetry, cleft palate, facial nerve palsy, congenital heart defect, multiple truncal café-au-lait spots, and developmental delay/intellectual deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Johnson neuroectodermal syndrome | Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome · Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome |
| fr | Syndrome neuroectodermique de Johnson | Syndrome d'alopécie-anosmie-surdité-hypogonadisme · Syndrome de Johnson-McMillin |
| de | Neuroektodermales Syndrom Typ Johnson | Alopezie-Anosmie-Schallleitungsschwerhörigkeit-Hypogonadismus-Syndrom · Alopezie-Anosmie-Taubheit-Hypogonadismus-Syndrom · Johnson-Mcmillin-Syndrom |
| es | Síndrome neuroectodérmico de Johnson | Síndrome de Johnson-McMillin · Síndrome de alopecia-anosmia-hipoacusia conductiva-hipogonadismo · Síndrome de alopecia-anosmia-sordera-hipogonadismo |
| it | Sindrome neuroectodermica di Johnson | Sindrome alopecia-anosmia-sordità-ipogonadismo · Sindrome di Johnson-McMillin |
| nl | Neuro-ectodermaal syndroom van Johnson | Alopecie - anosmie - conductief gehoorverlies - hypogonadisme-syndroom · Alopecie - anosmie - doofheid - hypogonadisme-syndroom · Syndroom van Johnson-McMillin |
| pt | Síndrome neuro-ectodérmico de Johnson | Síndrome de alopecia-anosmia-surdez-hipogonadismo |
| pl | Zespół neuroektodermalny Johnsona | Zespół Johnsona i McMillina · Zespół łysienia, braku węchu, głuchoty i hipogonadyzmu |
| cs | Johnsonové neuroektodermální syndrom | Syndrom zahrnující alopecii, anosmii, hluchotu a hypogonadismus · Johnsonové-McMillinův syndrom · Johnson-McMillinův syndrom |
| uk | Нейроектодермальний синдром Джонсона | Алопеція-аносмія-кондуктивна приглухуватість-гіпогонадизм · Синдром алопеції-аносмії-глухоти-гіпогонадизму · Синдром Джонсона-Мак-Мілліна |
| zh | Johnson神经外胚层综合征 | 脱发-嗅觉缺失-传导性听力损失-性腺功能减退综合征 |
| tr | Johnson nöroektodermal sendromu | Johnson-McMillin sendromu · Alopesi-anozmi-sağırlık-hipogonadizm sendromu · Alopesi-anozmi-iletim tipi işitme kaybı-hipogonadizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147770 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007837 | E | validated | |
| MeSH | C535882 | E | validated | |
| UMLS | C0796002 | E | validated | |
| GARD | 378 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2017-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000135 | Hypogonadism | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0000670 | Carious teeth | |
| HP:0000324 | Facial asymmetry | |
| HP:0010628 | Facial palsy | |
| HP:0001249 | Intellectual disability | |
| HP:0008551 | Microtia | |
| HP:0000411 | Protruding ear | |
| HP:0003510 | Severe short stature | |
| Occasional (29-5%) | ||
| HP:0000458 | Anosmia | |
| HP:0000414 | Bulbous nose | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001508 | Failure to thrive | |
| HP:0001161 | Hand polydactyly | |
| HP:0000966 | Hypohidrosis | |
| HP:0000252 | Microcephaly | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2316
- This record as JSON: /data/d/2316.json