SMITH-MCCORT DYSPLASIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: SMC
SMC1
Number of Symptoms 29
OrphanetNr:
OMIM Id: 607326
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:0002681) Deformed sella turcica 4 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0002692) Hypoplastic facial bones 5 / 7739
4
(HPO:0000268) Dolichocephaly 144 / 7739
5
(HPO:0002970) Genu varum 60 / 7739
6
(HPO:0000882) Hypoplastic scapulae 28 / 7739
7
(HPO:0002650) Scoliosis 705 / 7739
8
(HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
9
(HPO:0009803) Short phalanx of finger 79 / 7739
10
(HPO:0002857) Genu valgum 144 / 7739
11
(HPO:0003467) Atlantoaxial instability 6 / 7739
12
(HPO:0010582) Irregular epiphyses 19 / 7739
13
(HPO:0002808) Kyphosis 289 / 7739
14
(HPO:0000884) Prominent sternum 11 / 7739
15
(HPO:0000926) Platyspondyly 150 / 7739
16
(HPO:0003274) Hypoplastic acetabulae 7 / 7739
17
(HPO:0004568) Beaking of vertebral bodies 19 / 7739
18
(HPO:0003025) Metaphyseal irregularity 42 / 7739
19
(HPO:0010049) Short metacarpal 99 / 7739
20
(HPO:0008835) Multicentric femoral head ossification 2 / 7739
21
(HPO:0008829) Delayed femoral head ossification 2 / 7739
22
(HPO:0003498) Disproportionate short stature 28 / 7739
23
(OMIM) Short barrel-shaped chest 2 / 7739
24
(OMIM) Short ischia 2 / 7739
25
(OMIM) Normal intelligence 81 / 7739
26
(OMIM) Lacy iliac crest 1 / 7739
27
(OMIM) Wide symphysis pubis 1 / 7739
28
(OMIM) Small calvarium 1 / 7739
29
(OMIM) Thick femoral neck 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 limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, ...
Clinical Description OMIM Nakamura et al. (1997) examined iliac crest biopsies from 2 patients with Smith-McCort dysplasia. The lace-like appearance of the iliac crests, which is a characteristic radiologic sign, was caused by bone tissue deposited in a wavy pattern at ...
Molecular genetics OMIM In patients with SMC, Cohn et al. (2003) identified mutations in the DYM gene (607461.0005-607461.0006).

In an affected 6-year-old girl, offspring of consanguineous parents from the Portuguese Madeira Island, Santos et al. (2009) identified homozygosity for ...