Spondyloepimetaphyseal dysplasia, Bieganski type

General Information (adopted from Orphanet):

Synonyms, Signs: SEMD, X-LINKED, WITH MENTAL DETERIORATION
Number of Symptoms 52
OrphanetNr: 168448
OMIM Id: 300232
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked 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:0002645) Wormian bones 65 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0000272) Malar flattening 277 / 7739
4
(HPO:0000470) Short neck 345 / 7739
5
(HPO:0011800) Midface retrusion 221 / 7739
6
(HPO:0000455) Broad nasal tip 67 / 7739
7
(HPO:0000280) Coarse facial features 189 / 7739
8
(HPO:0000316) Hypertelorism 644 / 7739
9
(HPO:0000574) Thick eyebrow 96 / 7739
10
(HPO:0005280) Depressed nasal bridge 381 / 7739
11
(HPO:0000294) Low anterior hairline 52 / 7739
12
(HPO:0000543) Optic disc pallor 67 / 7739
13
(HPO:0000369) Low-set ears 372 / 7739
14
(HPO:0006887) Intellectual disability, progressive 68 / 7739
15
(HPO:0001250) Seizures 1245 / 7739
16
(HPO:0002750) Delayed skeletal maturation 250 / 7739
17
(HPO:0003071) Flattened epiphysis 14 / 7739
18
(HPO:0000907) Anterior rib cupping 12 / 7739
19
(HPO:0003016) Metaphyseal widening 41 / 7739
20
(HPO:0006423) Peg-like central prominence of distal tibial metaphyses 1 / 7739
21
(HPO:0002869) Flared iliac wings 20 / 7739
22
(HPO:0001156) Brachydactyly syndrome 180 / 7739
23
(HPO:0001169) Broad palm 43 / 7739
24
(HPO:0000926) Platyspondyly 150 / 7739
25
(HPO:0002812) Coxa vara 58 / 7739
26
(HPO:0010585) Small epiphyses 16 / 7739
27
(HPO:0002942) Thoracic kyphosis 14 / 7739
28
(HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
29
(HPO:0100864) Short femoral neck 36 / 7739
30
(HPO:0000883) Thin ribs 31 / 7739
31
(HPO:0001769) Broad foot 31 / 7739
32
(HPO:0000884) Prominent sternum 11 / 7739
33
(HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
34
(HPO:0008789) Cone-shaped capital femoral epiphysis 2 / 7739
35
(HPO:0003021) Metaphyseal cupping 16 / 7739
36
(HPO:0009381) Short finger 45 / 7739
37
(HPO:0001371) Flexion contracture 220 / 7739
38
(HPO:0006028) Metaphyseal cupping of metacarpals 4 / 7739
39
(HPO:0004322) Short stature 1232 / 7739
40
(HPO:0012704) Widened subarachnoid space 3 / 7739
41
(OMIM) Short, hypoplastic femoral necks 1 / 7739
42
(OMIM) Large, broad hands 1 / 7739
43
(MedDRA:10072883) Brachydactyly 153 / 7739
44
(HPO:0012448) Delayed myelination 51 / 7739
45
(OMIM) Inferior rib flaring 1 / 7739
46
(OMIM) Cone-shaped capital femoral epiphyses 1 / 7739
47
(OMIM) Small flattened epiphyses (distal femora and proximal tibiae) 3 / 7739
48
(OMIM) Widened subarachnoid spaces 1 / 7739
49
(OMIM) Large, broad feet 1 / 7739
50
(HPO:0002188) Delayed CNS myelination 16 / 7739
51
(HPO:0001419) X-linked recessive inheritance 189 / 7739
52
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bieganski et al. (1999) described a distinct form of spondyloepimetaphyseal dysplasia in 3 boys related through their mothers, in a pattern clearly consistent with X-linked recessive inheritance. The main clinical features were short stature, abnormal face, skeletal deformities, ...