Stoll-Alembik-Finck syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 3200
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
2
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
3
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
4
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
5
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
6
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
8
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
9
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
11
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
16
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
17
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
18
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
19
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
20
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: