Neuroectodermal-endocrine syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Oerter-Friedman-Anderson syndrome |
| Number of Symptoms | 17 |
| OrphanetNr: | 2676 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic polyendocrinopathy
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Polyendocrinopathy -Rare endocrine 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:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000311) | Round face | Very frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0001176) | Large hands | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0009465) | Ulnar deviation of finger | Very frequent [Orphanet] | 48 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000956) | Acanthosis nigricans | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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