Cleft palate-lateral synechia syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CPLS SYNDROME CLEFT PALATE-LATERAL SYNECHIA SYNDROME |
| Number of Symptoms | 14 |
| OrphanetNr: | 2016 |
| OMIM Id: |
119550
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0795898 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
403772000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000293) | Full cheeks | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0000159) | Abnormality of the lip | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0010285) | Oral synechia | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000153) | Abnormality of the mouth | Very frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000308) | Microretrognathia | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Occasional [Orphanet] | 197 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Lateral synechia | 1 / 7739 | ||||
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(OMIM) | Cord-like adhesions between tongue and floor of mouth | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. Laster et al. (2001) proposed a classification for bony ... |
| Clinical Description OMIM |
Fuhrmann et al. (1972) described a new syndrome of cleft palate combined with multiple cordlike adhesions between the free borders of the palate and lateral parts of the tongue and floor of the mouth. The full syndrome occurred ... |