Fronto-facio-nasal dysostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OAFNS Gollop syndrome Fronto-facio-nasal dysplasia Oculo-auriculo-fronto-nasal syndrome |
| Number of Symptoms | 46 |
| OrphanetNr: | 1791 |
| OMIM Id: |
229400
601452 |
| ICD-10: |
Q75.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis Frontonasal dysplasia -Rare bone disease -Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare genetic disease Median facial cleft -Rare developmental defect during embryogenesis -Rare maxillo-facial surgical disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic ankyloblepharon -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic palpebral coloboma -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0007708) | Absent inner eyelashes | 2 / 7739 | ||||
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(HPO:0002006) | Facial cleft | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0004408) | Abnormality of the sense of smell | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0011803) | Bifid nose | 12 / 7739 | ||||
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(HPO:0011331) | Hemifacial atrophy | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000366) | Abnormality of the nose | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0200102) | Sparse or absent eyelashes | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0005466) | Hypoplasia of the frontal bone | 3 / 7739 | ||||
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(HPO:0009924) | Aplasia/Hypoplasia involving the nose | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0000337) | Broad forehead | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000202) | Oral cleft | 120 / 7739 | ||||
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(HPO:0007835) | S-shaped palpebral fissures | 3 / 7739 | ||||
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(HPO:0004423) | Cranium bifidum occultum | 3 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000625) | Cleft eyelid | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0009755) | Ankyloblepharon | 10 / 7739 | ||||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000453) | Choanal atresia | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0002084) | Encephalocele | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0000482) | Microcornea | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0001140) | Epibulbar dermoid | Frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0007541) | Frontal cutaneous lipoma | 2 / 7739 | ||||
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(HPO:0200040) | Epidermoid cyst | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0030001) | Lagopthalmos | Frequent [Orphanet] | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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