Singleton-Merten dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Singleton-Merten syndrome
Number of Symptoms 47
OrphanetNr: 85191
OMIM Id: 182250
ICD-10: I99
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth 145 / 7739
2
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
3
 (HPO:0000706) Unerupted tooth 10 / 7739
4
 (HPO:0006353) Hypoplasia of the tooth germ 1 / 7739
5
 (HPO:0000319) Smooth philtrum 72 / 7739
6
 (HPO:0000337) Broad forehead 116 / 7739
7
 (HPO:0009890) High anterior hairline 10 / 7739
8
 (HPO:0000501) Glaucoma 180 / 7739
9
 (HPO:0000545) Myopia 286 / 7739
10
 (HPO:0002515) Waddling gait 56 / 7739
11
 (HPO:0004380) Aortic valve calcification 5 / 7739
12
 (HPO:0001762) Talipes equinovarus 309 / 7739
13
 (HPO:0100550) Tendon rupture 17 / 7739
14
 (HPO:0005303) Aortic arch calcification 2 / 7739
15
 (HPO:0001761) Pes cavus 225 / 7739
16
 (HPO:0002857) Genu valgum 144 / 7739
17
 (HPO:0004962) Thoracic aorta calcification 1 / 7739
18
 (HPO:0006386) Hypoplastic distal radial epiphyses 1 / 7739
19
 (HPO:0004382) Mitral valve calcification 5 / 7739
20
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
21
 (HPO:0002827) Hip dislocation 94 / 7739
22
 (HPO:0006112) Expanded phalanges with widened medullary cavities 1 / 7739
23
 (HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
24
 (HPO:0002673) Coxa valga 57 / 7739
25
 (HPO:0006232) Expanded metacarpals with widened medullary cavities 1 / 7739
26
 (HPO:0000939) Osteoporosis 129 / 7739
27
 (HPO:0008102) Expanded metatarsals with widened medullary cavities 1 / 7739
28
 (HPO:0001510) Growth delay 295 / 7739
29
 (HPO:0004325) Decreased body weight 492 / 7739
30
 (HPO:0004322) Short stature 1232 / 7739
31
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
32
 (HPO:0001806) Onycholysis 20 / 7739
33
 (HPO:0001682) Subaortic stenosis 17 / 7739
34
 (HPO:0001650) Aortic valve stenosis 49 / 7739
35
 (HPO:0001635) Congestive heart failure 232 / 7739
36
 (HPO:0001640) Cardiomegaly 81 / 7739
37
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
38
 (HPO:0001324) Muscle weakness 859 / 7739
39
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
40
 (HPO:0010547) Muscle flaccidity 466 / 7739
41
 (HPO:0001252) Muscular hypotonia 990 / 7739
42
 (OMIM) Nonspecific muscle fiber atrophy 1 / 7739
43
 (OMIM) Talipes tquinovarus 1 / 7739
44
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
45
 (OMIM) Dry, scaly skin 3 / 7739
46
 (HPO:0030043) Hip Subluxation 9 / 7739
47
 (OMIM) Psoriasiform skin lesions 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Singleton and Merten (1973) and Gay and Kuhn (1976) reported a total of 4 unrelated patients, male and female, with dental dysplasia, progressive calcification of the thoracic aorta, calcific aortic stenosis, osteoporosis, and expansion of the marrow cavities ...