Cleft palate
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CLEFT PALATE CP CLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED CPI |
| Number of Symptoms | 17 |
| OrphanetNr: | 2014 |
| OMIM Id: |
119540
|
| ICD-10: |
Q35 |
| UMLs: |
C0008925 |
| MeSH: |
D002972 |
| MedDRA: |
10009269 |
| Snomed: |
253986002 87979003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare head and neck malformation
-Rare developmental defect during embryogenesis Rare maxillo-facial surgical disease -Rare maxillo-facial surgical disease |
Symptom Information:
|
|
(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
|
|
(HPO:0000204) | Cleft upper lip | Occasional [Orphanet] | 193 / 7739 | |||
|
|
(HPO:0000212) | Gingival overgrowth | 43 / 7739 | ||||
|
|
(HPO:0009102) | Anterior open-bite malocclusion | 5 / 7739 | ||||
|
|
(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
|
|
(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
|
|
(HPO:0011094) | Overbite | 5 / 7739 | ||||
|
|
(HPO:0002187) | Intellectual disability, profound | 44 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(OMIM) | Mandibular hypoplasia, asymmetric | 1 / 7739 | ||||
|
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(OMIM) | Short zygomatic arches | 1 / 7739 | ||||
|
|
(OMIM) | Anterior overbite | 2 / 7739 | ||||
|
|
(OMIM) | Jovial personality | 1 / 7739 | ||||
|
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(OMIM) | Cleft palate, midline | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Flattened mandibular condylar heads | 1 / 7739 | ||||
|
|
(OMIM) | Anterior-pointing incisors | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); ... |
| Molecular genetics OMIM |
In a Thai man with isolated cleft palate, gum hyperplasia, slight micrognathia, generalized osteoporosis, and mental retardation, Leoyklang et al. (2007) identified a heterozygous de novo mutation in the SATB2 gene (608148.0001). CT scan of the facial bones ... |