Micromelic dwarfism, Fryns type

General Information (adopted from Orphanet):

Synonyms, Signs: SEMD, MICROMELIC
DWARFISM, MICROMELIC, WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS
Number of Symptoms 13
OrphanetNr: 2641
OMIM Id: 601096
ICD-10: Q77.8
UMLs: C1832800
MeSH: C537556
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylometaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0001156) Brachydactyly syndrome 180 / 7739
4
(HPO:0003422) Vertebral segmentation defect 95 / 7739
5
(HPO:0000774) Narrow chest 167 / 7739
6
(HPO:0100255) Metaphyseal dysplasia 26 / 7739
7
(HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
8
(HPO:0008873) Disproportionate short-limb short stature 39 / 7739
9
(OMIM) Severe micromelic dwarfism 1 / 7739
10
(OMIM) Short and narrow upper thorax 1 / 7739
11
(OMIM) Severe vertebral segmentation defects 1 / 7739
12
(OMIM) Generalized metaphyseal skeletal dysplasia 1 / 7739
13
(MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fryns et al. (1996) presented the clinical and radiologic findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year, mental development was slightly retarded. ...