Anauxetic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, MENGER TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE
Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, anauxetic type
Number of Symptoms 24
OrphanetNr: 93347
OMIM Id: 607095
ICD-10: Q77.7
UMLs: C1846796
MeSH: C538256
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:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000668) Hypodontia 81 / 7739
3
 (HPO:0002680) J-shaped sella turcica 15 / 7739
4
 (HPO:0000470) Short neck 345 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
7
 (HPO:0009381) Short finger 45 / 7739
8
 (HPO:0000946) Hypoplastic ilia 21 / 7739
9
 (HPO:0003015) Flared metaphysis 44 / 7739
10
 (HPO:0000926) Platyspondyly 150 / 7739
11
 (HPO:0010585) Small epiphyses 16 / 7739
12
 (HPO:0008905) Rhizomelia 85 / 7739
13
 (HPO:0003308) Cervical subluxation 6 / 7739
14
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
15
 (HPO:0001831) Short toe 52 / 7739
16
 (OMIM) Short 4 / 7739
17
 (OMIM) Abnormal columnization of chondrocytes 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Slanting acetabular roots 1 / 7739
20
 (MedDRA:10072883) Brachydactyly 153 / 7739
21
 (OMIM) Severely disproportionate short stature 1 / 7739
22
 (HPO:0002341) Cervical cord compression 3 / 7739
23
 (OMIM) Dilated rough endoplasmic reticulum (RER) 1 / 7739
24
 (OMIM) Rhizomelic shortening 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Menger et al. (1996) described 3 sibs born to first-cousin Jordanian parents. These children had extreme disproportionate short stature with final adult height in 1 individual being 85 cm. The children had a distinct facial appearance with hypotelorism, ...
Molecular genetics OMIM Thiel et al. (2005) performed homozygosity mapping at the anauxetic dysplasia locus, which led to the identification of novel mutations in the RMRP gene (157660.0018-157660.0021). Mutations in this gene also cause 2 milder types of short stature with ...