GRANDDAD SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUS FAT, AUTOSOMAL DOMINANT INHERITANCE
Number of Symptoms 17
OrphanetNr:
OMIM Id: 138920
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:0000490) Deeply set eye 131 / 7739
2
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
3
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
4
 (HPO:0002007) Frontal bossing 366 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0001595) Abnormality of the hair 89 / 7739
7
 (HPO:0000325) Triangular face 91 / 7739
8
 (HPO:0000233) Thin vermilion border 124 / 7739
9
 (HPO:0005322) Prominent nasal septum 1 / 7739
10
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
11
 (HPO:0000411) Protruding ear 140 / 7739
12
 (HPO:0005328) Progeroid facial appearance 13 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (OMIM) Midfacial hypoplasia 3 / 7739
15
 (OMIM) Normal mental development 2 / 7739
16
 (OMIM) Postnatal growth delay 3 / 7739
17
 (OMIM) Thin or absent scalp hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Marion et al. (1989) observed 7 patients who presented a prematurely aged facial appearance and the following features: intrauterine growth retardation with postnatal growth delay, normal mental development, and decreased subcutaneous fat. The facial appearance included triangular facies, ...