MCID: SHR023
MIFTS: 17

Short Stature Syndrome, Brussels Type

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Short Stature Syndrome, Brussels Type

MalaCards integrated aliases for Short Stature Syndrome, Brussels Type:

Name: Short Stature Syndrome, Brussels Type 56 52 71
Familial Short Stature with Facial Dysmorphism and Osteochondrodysplastic Lesions 52
Mievis Verellen-Dumoulin Syndrome 52
Mievis-Verellen-Dumoulin Syndrome 58
Short Stature, Brussels Type 58

Characteristics:

Orphanet epidemiological data:

58
short stature, brussels type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
possible x-linked inheritance


HPO:

31
short stature syndrome, brussels type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601350
MESH via Orphanet 44 C537121
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1832439
Orphanet 58 ORPHA2867
MedGen 41 C1832439
UMLS 71 C1832439

Summaries for Short Stature Syndrome, Brussels Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2867 Definition This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. Epidemiology It has been described in two members from the same family. Visit the Orphanet disease page for more resources.

MalaCards based summary : Short Stature Syndrome, Brussels Type, is also known as familial short stature with facial dysmorphism and osteochondrodysplastic lesions. Affiliated tissues include bone and kidney, and related phenotypes are short stature and macrocephaly

More information from OMIM: 601350

Related Diseases for Short Stature Syndrome, Brussels Type

Symptoms & Phenotypes for Short Stature Syndrome, Brussels Type

Human phenotypes related to Short Stature Syndrome, Brussels Type:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
3 horseshoe kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000085
4 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
5 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
6 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
7 calcification of cartilage 58 31 frequent (33%) Frequent (79-30%) HP:0100593
8 delayed epiphyseal ossification 58 31 frequent (33%) Frequent (79-30%) HP:0002663
9 abnormal facial shape 58 Very frequent (99-80%)
10 abnormality of metabolism/homeostasis 31 HP:0001939
11 growth delay 58 Very frequent (99-80%)
12 relative macrocephaly 31 HP:0004482
13 thick growth plates 31 HP:0025369

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Face:
triangular face
retromicrognathia

Head And Neck Head:
large head

Skeletal Limbs:
delayed epiphyseal maturation
unusual metaphyses
thick growth plates with dense islets of calcified cartilage

Genitourinary Kidneys:
horseshoe kidney

Chest External Features:
narrow thoracic cage
low chest circumference

Growth Other:
slender trunk

Clinical features from OMIM:

601350

Drugs & Therapeutics for Short Stature Syndrome, Brussels Type

Search Clinical Trials , NIH Clinical Center for Short Stature Syndrome, Brussels Type

Genetic Tests for Short Stature Syndrome, Brussels Type

Anatomical Context for Short Stature Syndrome, Brussels Type

MalaCards organs/tissues related to Short Stature Syndrome, Brussels Type:

40
Bone, Kidney

Publications for Short Stature Syndrome, Brussels Type

Articles related to Short Stature Syndrome, Brussels Type:

# Title Authors PMID Year
1
A new familial short stature syndrome: Brussels type. 56 61
8867654 1996

Variations for Short Stature Syndrome, Brussels Type

Expression for Short Stature Syndrome, Brussels Type

Search GEO for disease gene expression data for Short Stature Syndrome, Brussels Type.

Pathways for Short Stature Syndrome, Brussels Type

GO Terms for Short Stature Syndrome, Brussels Type

Sources for Short Stature Syndrome, Brussels Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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