Spondyloepimetaphyseal dysplasia, Irapa type

General Information (adopted from Orphanet):

Synonyms, Signs: SEMDIT
SEMD type Irapa
SEMD, Irapa type
Number of Symptoms 43
OrphanetNr: 93351
OMIM Id: 271650
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
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:0002515) Waddling gait 56 / 7739
2
 (HPO:0000768) Pectus carinatum 136 / 7739
3
 (HPO:0001377) Limited elbow extension 38 / 7739
4
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
5
 (HPO:0009824) Upper limb undergrowth 8 / 7739
6
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
7
 (HPO:0002812) Coxa vara 58 / 7739
8
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
9
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
10
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
11
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
12
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
13
 (HPO:0002857) Genu valgum 144 / 7739
14
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
15
 (HPO:0006429) Broad femoral neck 18 / 7739
16
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
17
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
18
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
19
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
20
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
21
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
22
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
23
 (HPO:0001241) Capitate-hamate fusion 6 / 7739
24
 (HPO:0002829) Arthralgia 79 / 7739
25
 (HPO:0001769) Broad foot 31 / 7739
26
 (HPO:0010049) Short metacarpal 99 / 7739
27
 (HPO:0010743) Short metatarsal 56 / 7739
28
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
29
 (HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
30
 (HPO:0001169) Broad palm 43 / 7739
31
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
32
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
33
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
34
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
35
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
36
 (OMIM) Broad, short hands 14 / 7739
37
 (OMIM) Protruding iliac wings 1 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (OMIM) Severe epiphyseal hypoplasia 1 / 7739
40
 (OMIM) Flat, broad feet 1 / 7739
41
 (OMIM) Long second toe (in some patients) 3 / 7739
42
 (OMIM) Small sacrum 1 / 7739
43
 (OMIM) Diaphyseal shortness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Arias et al. (1976) described a seemingly new form of skeletal dysplasia among the Irapa Indians of Venezuela. Features included short spine from platyspondyly, short metacarpals and metatarsals, and striking changes in the proximal femoral and distal humeral ...