Smith-McCort dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 178355
OMIM Id: 607326
615222
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0002692) Hypoplastic facial bones 5 / 7739
3
 (HPO:0002681) Deformed sella turcica 4 / 7739
4
 (HPO:0000268) Dolichocephaly 144 / 7739
5
 (HPO:0002515) Waddling gait 56 / 7739
6
 (HPO:0002808) Kyphosis 289 / 7739
7
 (HPO:0000884) Prominent sternum 11 / 7739
8
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
9
 (HPO:0009803) Short phalanx of finger 79 / 7739
10
 (HPO:0008829) Delayed femoral head ossification 2 / 7739
11
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
12
 (HPO:0003274) Hypoplastic acetabulae 7 / 7739
13
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
14
 (HPO:0010049) Short metacarpal 99 / 7739
15
 (HPO:0002970) Genu varum 60 / 7739
16
 (HPO:0002857) Genu valgum 144 / 7739
17
 (HPO:0003467) Atlantoaxial instability 6 / 7739
18
 (HPO:0010582) Irregular epiphyses 19 / 7739
19
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
20
 (HPO:0000926) Platyspondyly 150 / 7739
21
 (HPO:0002650) Scoliosis 705 / 7739
22
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
23
 (HPO:0008835) Multicentric femoral head ossification 2 / 7739
24
 (HPO:0001552) Barrel-shaped chest 31 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: