MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 608257
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
2
 (HPO:0005321) Mandibulofacial dysostosis 7 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000272) Malar flattening 277 / 7739
5
 (HPO:0000689) Dental malocclusion 114 / 7739
6
 (HPO:0007911) Congenital bilateral ptosis 2 / 7739
7
 (HPO:0000405) Conductive hearing impairment 164 / 7739
8
 (HPO:0009892) Anotia 8 / 7739
9
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
10
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
11
 (HPO:0001215) Camptodactyly of 2nd-5th fingers 8 / 7739
12
 (HPO:0012385) Camptodactyly 113 / 7739
13
 (HPO:0100490) Camptodactyly of finger 212 / 7739
14
 (HPO:0009473) Joint contracture of the hand 84 / 7739
15
 (HPO:0001836) Camptodactyly of toe 27 / 7739
16
 (HPO:0001792) Small nail 55 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Rudimentary ear 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: