Charlie M syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 1406
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: 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
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
Oro-mandibular-limb hypogenesis syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease

Symptom Information: Sort by abundance 

1
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
2
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
3
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
7
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
8
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
9
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
10
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
11
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
12
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
13
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
14
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739
15
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: