PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr:
OMIM Id: 602249
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:0003758) Reduced subcutaneous adipose tissue 27 / 7739
2
(HPO:0001636) Tetralogy of Fallot 104 / 7739
3
(HPO:0001256) Intellectual disability, mild 141 / 7739
4
(HPO:0001562) Oligohydramnios 75 / 7739
5
(HPO:0009183) Joint contracture of the 5th finger 8 / 7739
6
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
7
(HPO:0100807) Long fingers 23 / 7739
8
(HPO:0001166) Arachnodactyly 62 / 7739
9
(HPO:0010554) Cutaneous finger syndactyly 39 / 7739
10
(HPO:0002007) Frontal bossing 366 / 7739
11
(HPO:0000252) Microcephaly 832 / 7739
12
(HPO:0008070) Sparse hair 94 / 7739
13
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
14
(HPO:0000160) Narrow mouth 188 / 7739
15
(HPO:0000322) Short philtrum 130 / 7739
16
(HPO:0000233) Thin vermilion border 124 / 7739
17
(HPO:0000448) Prominent nose 56 / 7739
18
(HPO:0000581) Blepharophimosis 197 / 7739
19
(HPO:0000405) Conductive hearing impairment 164 / 7739
20
(HPO:0000411) Protruding ear 140 / 7739
21
(HPO:0005328) Progeroid facial appearance 13 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Partial cutaneous syndactyly 2 / 7739
24
(OMIM) Prominent veins 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Giannotti et al. (1997) described a father and son with a progeroid syndrome characterized by an unusual facial appearance, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and clinodactyly ('finger deviation'). Mild mental retardation, microcephaly, and congenital ...