Spondyloepimetaphyseal dysplasia, Geneviève type

General Information (adopted from Orphanet):

Synonyms, Signs: SEMD, GENEVIEVE TYPE
Number of Symptoms 41
OrphanetNr: 168454
OMIM Id: 610442
ICD-10: Q77.7
UMLs:
MeSH: C535785
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0012471) Thick vermilion border 115 / 7739
2
(HPO:0000286) Epicanthus 371 / 7739
3
(HPO:0000248) Brachycephaly 222 / 7739
4
(HPO:0000445) Wide nose 190 / 7739
5
(HPO:0000294) Low anterior hairline 52 / 7739
6
(HPO:0000280) Coarse facial features 189 / 7739
7
(HPO:0002162) Low posterior hairline 88 / 7739
8
(HPO:0000664) Synophrys 112 / 7739
9
(HPO:0000179) Thick lower lip vermilion 72 / 7739
10
(HPO:0000470) Short neck 345 / 7739
11
(HPO:0000252) Microcephaly 832 / 7739
12
(HPO:0000639) Nystagmus 555 / 7739
13
(HPO:0000377) Abnormality of the pinna 111 / 7739
14
(HPO:0001251) Ataxia 413 / 7739
15
(HPO:0001249) Intellectual disability 1089 / 7739
16
(HPO:0001498) Carpal bone hypoplasia 17 / 7739
17
(HPO:0003085) Long fibula 5 / 7739
18
(HPO:0100864) Short femoral neck 36 / 7739
19
(HPO:0003180) Flat acetabular roof 25 / 7739
20
(HPO:0003015) Flared metaphysis 44 / 7739
21
(HPO:0010582) Irregular epiphyses 19 / 7739
22
(HPO:0002868) Narrow iliac wings 15 / 7739
23
(HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
24
(HPO:0003025) Metaphyseal irregularity 42 / 7739
25
(HPO:0000926) Platyspondyly 150 / 7739
26
(HPO:0010585) Small epiphyses 16 / 7739
27
(HPO:0005121) Posterior scalloping of vertebral bodies 4 / 7739
28
(HPO:0003301) Irregular vertebral endplates 25 / 7739
29
(HPO:0001007) Hirsutism 91 / 7739
30
(HPO:0000951) Abnormality of the skin 147 / 7739
31
(HPO:0004763) Paroxysmal supraventricular tachycardia 10 / 7739
32
(HPO:0001324) Muscle weakness 859 / 7739
33
(HPO:0001252) Muscular hypotonia 990 / 7739
34
(HPO:0010547) Muscle flaccidity 466 / 7739
35
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
36
(OMIM) Large vacuoles with either myelinic or granular osmiophilic bodies 1 / 7739
37
(OMIM) Large number of small vacuoles near cytoplasmic membrane in fibroblasts and macrophages 1 / 7739
38
(OMIM) Vertical striations of metaphyses 1 / 7739
39
(OMIM) Irregular, small epiphyses 6 / 7739
40
(OMIM) Eversion of lower lip 1 / 7739
41
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The spondyloepimetaphyseal dysplasias (SEMD) are a heterogeneous group of disorders characterized by involvement of the epiphyses, metaphyses, and vertebral bodies. Several forms include mental retardation as a feature. Classification of the SEMDs is based on clinical, radiologic, and ...
Molecular genetics OMIM In 2 Pakistani sisters with a form of SEMD and mental retardation, Genevieve et al. (2005) excluded mutation in the DYM gene (607461), which is responsible for Dyggve-Melchior-Clausen syndrome (223800), and in the PAPSS2 gene (603005), which is ...