Dermochondrocorneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: FRANCOIS SYNDROME
François syndrome
Number of Symptoms 22
OrphanetNr: 79149
OMIM Id: 221800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease
Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000212) Gingival overgrowth 43 / 7739
2
 (HPO:0008039) Subepithelial corneal opacities 1 / 7739
3
 (HPO:0007795) Anterior cortical cataract 1 / 7739
4
 (HPO:0001131) Corneal dystrophy 56 / 7739
5
 (HPO:0003042) Elbow dislocation 89 / 7739
6
 (HPO:0002999) Patellar dislocation 46 / 7739
7
 (HPO:0003994) Dislocated wrist 24 / 7739
8
 (HPO:0003179) Protrusio acetabuli 37 / 7739
9
 (HPO:0001155) Abnormality of the hand 54 / 7739
10
 (HPO:0002827) Hip dislocation 94 / 7739
11
 (HPO:0001373) Joint dislocation 59 / 7739
12
 (HPO:0008134) Irregular tarsal ossification 2 / 7739
13
 (HPO:0012095) Multiple joint dislocation 24 / 7739
14
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
15
 (HPO:0003834) Shoulder dislocation 28 / 7739
16
 (HPO:0200036) Skin nodule 4 / 7739
17
 (OMIM) Anterior stromal haziness 1 / 7739
18
 (OMIM) Limited hand motion 1 / 7739
19
 (OMIM) Defective, irregular tarsal ossification 1 / 7739
20
 (OMIM) Skin nodules - fingers, elbows, nose, ears (onset infancy-childhood) 1 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Limited feet motion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Francois (1949) observed 2 affected sibs with skeletal deformity of the hands and feet; nodules on the pinnae, dorsal surface of the metacarpophalangel and interphalangeal joints, posterior surface of the elbows, nose, and ears; and corneal dystrophy. The ...