Hypertelorism-microtia-facial clefting syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Bixler-Christian-Gorlin syndrome hmc syndrome |
| Number of Symptoms | 31 |
| OrphanetNr: | 2213 |
| OMIM Id: |
239800
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| ICD-10: |
Q87.0 |
| 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 [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic 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:0100542) | Abnormal localization of kidney | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000086) | Ectopic kidney | 29 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0002006) | Facial cleft | 25 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000455) | Broad nasal tip | 67 / 7739 | ||||
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(HPO:0000366) | Abnormality of the nose | Occasional [Orphanet] | 56 / 7739 | |||
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(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0011803) | Bifid nose | 12 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000413) | Atresia of the external auditory canal | 32 / 7739 | ||||
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(HPO:0000372) | Abnormality of the auditory canal | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0009237) | Short 5th finger | 16 / 7739 | ||||
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(HPO:0003468) | Abnormality of the vertebrae | 77 / 7739 | ||||
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(HPO:0010488) | Aplasia/Hypoplasia of the palmar creases | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0001245) | Small thenar eminence | 10 / 7739 | ||||
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(HPO:0004691) | 2-3 toe syndactyly | 50 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Cleft nose | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Micrognathia, mild | 8 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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