Neuroectodermal syndrome, Johnson type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ALOPECIA-ANOSMIA-DEAFNESS-HYPOGONADISM SYNDROME AADH SYNDROME Alopecia - anosmia - deafness - hypogonadism johnson-mcmillin syndrome |
| Number of Symptoms | 53 |
| OrphanetNr: | 2316 |
| OMIM Id: |
147770
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| ICD-10: |
Q87.8 |
| UMLs: |
C0796002 |
| MeSH: |
C535882 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 30 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0008734) | Decreased testicular size | rare [HPO:skoehler] | 105 / 7739 | |||
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(HPO:0000044) | Hypogonadotrophic hypogonadism | 56 / 7739 | ||||
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(HPO:0000054) | Micropenis | rare [HPO:skoehler] | 257 / 7739 | |||
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(HPO:0000458) | Anosmia | 49 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | Occasional [Orphanet] | 90 / 7739 | |||
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(HPO:0200102) | Sparse or absent eyelashes | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000278) | Retrognathia | rare [HPO:skoehler] | 100 / 7739 | |||
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(HPO:0002223) | Absent eyebrow | 21 / 7739 | ||||
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(HPO:0000452) | Choanal stenosis | rare [HPO:skoehler] | 23 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0004408) | Abnormality of the sense of smell | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] rare [HPO:skoehler] | 832 / 7739 | |||
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(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0010628) | Facial palsy | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000453) | Choanal atresia | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0000561) | Absent eyelashes | 18 / 7739 | ||||
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(HPO:0000413) | Atresia of the external auditory canal | 32 / 7739 | ||||
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(HPO:0000411) | Protruding ear | Frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000598) | Abnormality of the ear | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | Occasional [Orphanet] | 230 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001161) | Hand polydactyly | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0001177) | Preaxial hand polydactyly | Occasional [Orphanet] | 59 / 7739 | |||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0000966) | Hypohidrosis | 41 / 7739 | ||||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0007565) | Multiple cafe-au-lait spots | 11 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000957) | Cafe-au-lait spot | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0008070) | Sparse hair | rare [HPO:skoehler] | 94 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | rare [HPO:skoehler] | 316 / 7739 | |||
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(HPO:0012020) | Right aortic arch | rare [HPO:skoehler] | 9 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | rare [HPO:skoehler] | 228 / 7739 | |||
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(HPO:0001636) | Tetralogy of Fallot | Occasional [Orphanet] | 104 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Occasional [Orphanet] | 58 / 7739 | |||
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(OMIM) | Multiple truncal cafe-au-lait spots | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Facial asymmetry, mild | 5 / 7739 | ||||
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(OMIM) | Tendency to dental caries | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Johnson et al. (1983) described a 'new' autosomal dominant neuroectodermal syndrome in which anosmia and hypogonadotropic hypogonadism were combined with conductive deafness, alopecia, and other anomalies. In 3 generations, 16 persons were affected. Deafness was associated with protruding ... |