Microspherophakia - metaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Verloes-Van Maldergem-de Marneffe syndrome
Number of Symptoms 41
OrphanetNr: 2551
OMIM Id: 157151
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lens size anomaly
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
2
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
3
 (HPO:0100719) Lens coloboma 4 / 7739
4
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
5
 (HPO:0001132) Lens subluxation 13 / 7739
6
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
7
 (HPO:0000517) Abnormality of the lens Very frequent [Orphanet] 12 / 7739
8
 (HPO:0001083) Ectopia lentis Very frequent [Orphanet] 45 / 7739
9
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
10
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
11
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
12
 (HPO:0005733) Spinal stenosis with reduced interpedicular distance 2 / 7739
13
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
14
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
15
 (HPO:0005752) Flattened moderately deformed vertebrae 2 / 7739
16
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
17
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
18
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
19
 (HPO:0002816) Genu recurvatum Frequent [Orphanet] 30 / 7739
20
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
21
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
22
 (HPO:0010582) Irregular epiphyses 19 / 7739
23
 (HPO:0001591) Bell-shaped thorax Very frequent [Orphanet] 35 / 7739
24
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
25
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
26
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
27
 (HPO:0002652) Skeletal dysplasia 113 / 7739
28
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
29
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
30
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
31
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
32
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
 (OMIM) Lip on inner edge of femoral neck 1 / 7739
36
 (OMIM) Thickened long bone diaphyses 1 / 7739
37
 (OMIM) Narrowed spinal canal with reduced interpedicular distance 1 / 7739
38
 (OMIM) Microspherophakia 7 / 7739
39
 (OMIM) Irregular epiphyses with delayed growth 1 / 7739
40
 (OMIM) Normal limb small bones 1 / 7739
41
 (OMIM) Metaphyseal deformation with age 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: