SMITH-MCCORT DYSPLASIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: SMC2
Number of Symptoms 33
OrphanetNr:
OMIM Id: 615222
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0000768) Pectus carinatum 136 / 7739
3
(HPO:0003888) Flattened humeral heads 1 / 7739
4
(HPO:0000926) Platyspondyly 150 / 7739
5
(HPO:0006429) Broad femoral neck 18 / 7739
6
(HPO:0001552) Barrel-shaped chest 31 / 7739
7
(HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
8
(HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
9
(HPO:0008812) Flattened femoral head 3 / 7739
10
(HPO:0002857) Genu valgum 144 / 7739
11
(HPO:0010049) Short metacarpal 99 / 7739
12
(HPO:0006009) Broad phalanx 11 / 7739
13
(HPO:0010743) Short metatarsal 56 / 7739
14
(HPO:0009803) Short phalanx of finger 79 / 7739
15
(HPO:0001763) Pes planus 176 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(HPO:0004325) Decreased body weight 492 / 7739
18
(OMIM) Flattened epiphysis of the lower tibia 1 / 7739
19
(OMIM) Elevated shoulder joints 1 / 7739
20
(OMIM) Mild odontoid hypoplasia 2 / 7739
21
(OMIM) Prominent heel 5 / 7739
22
(OMIM) Broad femoral neck, mild 1 / 7739
23
(OMIM) Irregular surface of iliac spine 1 / 7739
24
(OMIM) Irregular shallow acetabular roofs 1 / 7739
25
(OMIM) Broad metacarpal bones 2 / 7739
26
(OMIM) Broad interphalangeal joints 1 / 7739
27
(OMIM) Metaphyseal irregularity of the upper tibia 1 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(OMIM) Exaggerated lordosis 1 / 7739
30
(OMIM) Posterior double humps of vertebral body 1 / 7739
31
(OMIM) Reduced trochanter and femur head distance ratio 1 / 7739
32
(OMIM) Limited extension of elbow joints 1 / 7739
33
(OMIM) Broad metatarsal bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, ...
Clinical Description OMIM Alshammari et al. (2012) reported a consanguineous Saudi family in which 4 sibs and 2 first cousins had Dyggve-Melchior-Clausen syndrome and normal intelligence (Smith-McCort dysplasia). All were short and had variable degrees of progressive pectus carinatum deformity, limitation ...
Molecular genetics OMIM By exome sequencing of the proband in a consanguineous Saudi family segregating Smith-McCort syndrome linked to chromosome 4, Alshammari et al. (2012) identified a homozygous missense mutation in the RAB33B gene (K46Q; 605950.0001). Immunoblot analysis showed severe deficiency ...