Multiple epiphyseal dysplasia, Lowry type

General Information (adopted from Orphanet):

Synonyms, Signs: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH ROBIN PHENOTYPE
Multiple epiphyseal dysplasia with Robin phenotype
Number of Symptoms 42
OrphanetNr: 166016
OMIM Id: 601560
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple epiphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0004322) Short stature 1232 / 7739
3
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
4
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
5
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
6
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
7
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
8
 (HPO:0006167) Prominent proximal interphalangeal joints 1 / 7739
9
 (HPO:0001840) Metatarsus adductus 49 / 7739
10
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
11
 (HPO:0001762) Talipes equinovarus 309 / 7739
12
 (HPO:0002812) Coxa vara 58 / 7739
13
 (HPO:0100864) Short femoral neck 36 / 7739
14
 (HPO:0003038) Fibular hypoplasia 30 / 7739
15
 (HPO:0003097) Short femur 13 / 7739
16
 (HPO:0003083) Dislocated radial head 35 / 7739
17
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
18
 (HPO:0005792) Short humerus 34 / 7739
19
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
20
 (HPO:0000347) Micrognathia 426 / 7739
21
 (HPO:0000767) Pectus excavatum 244 / 7739
22
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
23
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
24
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
25
 (HPO:0010582) Irregular epiphyses 19 / 7739
26
 (HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
27
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
28
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
29
 (HPO:0000175) Cleft palate 349 / 7739
30
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
31
 (HPO:0000455) Broad nasal tip 67 / 7739
32
 (HPO:0000369) Low-set ears 372 / 7739
33
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
34
 (HPO:0001371) Flexion contracture 220 / 7739
35
 (HPO:0003745) Sporadic 131 / 7739
36
 (MedDRA:10072883) Brachydactyly 153 / 7739
37
 (OMIM) Brachymetacarpalia 3 / 7739
38
 (OMIM) Flat, irregular epiphyses 1 / 7739
39
 (OMIM) Joint contractures, mild 3 / 7739
40
 (OMIM) Mild coxa vara 1 / 7739
41
 (OMIM) Small flat capital femoral epiphyses 1 / 7739
42
 (OMIM) V-shaped cleft palate 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: