Acrogeria

General Information (adopted from Orphanet):

Synonyms, Signs: METAGERIA
Acrogeria, Gottron type
Gottron syndrome
acrometageria
Number of Symptoms 19
OrphanetNr: 2500
OMIM Id: 201200
ICD-10:
UMLs: C0238590
C0406584
MeSH: C538187
MedDRA:
Snomed: 238871000
238872007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Premature aging
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
2
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
3
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
4
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
5
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
6
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
7
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
8
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
10
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
11
 (HPO:0100678) Premature skin wrinkling Frequent [Orphanet] 25 / 7739
12
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
13
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
14
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
15
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
16
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
17
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
18
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: