GELEOPHYSIC DYSPLASIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: GPHYSD1
Number of Symptoms 37
OrphanetNr:
OMIM Id: 231050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003196) Short nose 264 / 7739
2
(HPO:0000311) Round face 104 / 7739
3
(HPO:0000463) Anteverted nares 305 / 7739
4
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
5
(HPO:0000154) Wide mouth 137 / 7739
6
(HPO:0002680) J-shaped sella turcica 15 / 7739
7
(HPO:0000391) Thickened helices 8 / 7739
8
(HPO:0001263) Global developmental delay 853 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0004279) Short palm 323 / 7739
11
(HPO:0100490) Camptodactyly of finger 212 / 7739
12
(HPO:0000938) Osteopenia 138 / 7739
13
(HPO:0002673) Coxa valga 57 / 7739
14
(HPO:0000767) Pectus excavatum 244 / 7739
15
(HPO:0001773) Short foot 86 / 7739
16
(HPO:0003026) Short long bone 51 / 7739
17
(HPO:0006161) Short metacarpals with rounded proximal ends 2 / 7739
18
(HPO:0001239) Wrist flexion contracture 13 / 7739
19
(HPO:0002240) Hepatomegaly 467 / 7739
20
(HPO:0004322) Short stature 1232 / 7739
21
(HPO:0001072) Thickened skin 87 / 7739
22
(HPO:0001792) Small nail 55 / 7739
23
(HPO:0100679) Lack of skin elasticity 29 / 7739
24
(HPO:0010446) Tricuspid stenosis 5 / 7739
25
(HPO:0001650) Aortic valve stenosis 49 / 7739
26
(HPO:0001718) Mitral stenosis 10 / 7739
27
(HPO:0001635) Congestive heart failure 232 / 7739
28
(HPO:0002777) Tracheal stenosis 35 / 7739
29
(HPO:0001620) High pitched voice 32 / 7739
30
(OMIM) Small, irregular capital femoral epiphyses 2 / 7739
31
(OMIM) Normal upper/lower segment ratio 1 / 7739
32
(OMIM) 'Pleasant, happy-nature' appearance 1 / 7739
33
(MedDRA:10060042) Head circumference normal 5 / 7739
34
(OMIM) Short, plump tubular bones 1 / 7739
35
(OMIM) Long smooth philtrum 9 / 7739
36
(OMIM) Birth weight normal 14 / 7739
37
(OMIM) Brainstem bronchi stenosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected ...
Clinical Description OMIM Spranger et al. (1971) suggested the designation 'geleophysic' because of the happy-appearing faces of the affected children (gelios = happy, physis = nature); the typical facies includes upturned corners of the mouth. They further suggested that the disorder ...
Molecular genetics OMIM Because geleophysic dysplasia belongs to the group of acromelic dysplasias that also includes the autosomal recessive form of Weill-Marchesani syndrome (277600), which is caused by mutations in ADAMTS10 (608990), Le Goff et al. (2008) considered the ADAMTSL2 gene ...