MCID: MSM019
MIFTS: 21

Mesomelic Dysplasia, Savarirayan Type

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mesomelic Dysplasia, Savarirayan Type

MalaCards integrated aliases for Mesomelic Dysplasia, Savarirayan Type:

Name: Mesomelic Dysplasia, Savarirayan Type 56 58
Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias 56 52 58
Triangular Tibia-Fibular Aplasia Syndrome 58
Mesomelic Dysplasia Savarirayan Type 52
Triangular Tibia and Fibular Aplasia 52

Characteristics:

Orphanet epidemiological data:

58
mesomelic dysplasia, savarirayan type
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
mesomelic dysplasia, savarirayan type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 605274
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 72 C1854470
Orphanet 58 ORPHA85170
MedGen 41 C1854470

Summaries for Mesomelic Dysplasia, Savarirayan 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: 85170 Definition Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mesomelic Dysplasia, Savarirayan Type, also known as mesomelic dysplasia with absent fibulas and triangular tibias, is related to alacrima, achalasia, and mental retardation syndrome and mesomelia. An important gene associated with Mesomelic Dysplasia, Savarirayan Type is ID4 (Inhibitor Of DNA Binding 4, HLH Protein). Affiliated tissues include bone, and related phenotypes are skeletal dysplasia and bowing of the long bones

More information from OMIM: 605274

Related Diseases for Mesomelic Dysplasia, Savarirayan Type

Diseases related to Mesomelic Dysplasia, Savarirayan Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4
2 mesomelia 10.4

Symptoms & Phenotypes for Mesomelic Dysplasia, Savarirayan Type

Human phenotypes related to Mesomelic Dysplasia, Savarirayan Type:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
5 metatarsus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010508
6 narrow iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0002868
7 fibular aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002990
8 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
9 high iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008808
10 flared radial metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004018
11 broad tibial metaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0006413
12 hypoplasia of proximal radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006434
13 glenoid fossa hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006633
14 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
15 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
16 global developmental delay 31 HP:0001263
17 abnormality of the thorax 31 HP:0000765
18 abnormality of the foot 31 HP:0001760
19 dislocated radial head 31 HP:0003083
20 short tibia 31 HP:0005736
21 talipes equinovalgus 31 HP:0001772
22 delayed closure of the anterior fontanelle 31 HP:0001476

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal Limbs:
dislocation of radial head
hypoplastic tibia
mesomelic limb shortening (lower limb greater than upper limb)
proximal widening of ulna
oval or triangular-shaped tibia
more
Skeletal Feet:
normal phalanges
equinovalgus
normal tarsal
normal metatarsals

Skeletal Hands:
normal hands

Neurologic Central Nervous System:
developmental delay

Skeletal Pelvis:
dislocated hips
hypoplastic acetabular roof
widened sacro-sciatic notch
tall, narrow ilia

Head And Neck Head:
delayed closure of anterior fontanelle

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic glenoid

Clinical features from OMIM:

605274

Drugs & Therapeutics for Mesomelic Dysplasia, Savarirayan Type

Search Clinical Trials , NIH Clinical Center for Mesomelic Dysplasia, Savarirayan Type

Genetic Tests for Mesomelic Dysplasia, Savarirayan Type

Anatomical Context for Mesomelic Dysplasia, Savarirayan Type

MalaCards organs/tissues related to Mesomelic Dysplasia, Savarirayan Type:

40
Bone

Publications for Mesomelic Dysplasia, Savarirayan Type

Articles related to Mesomelic Dysplasia, Savarirayan Type:

# Title Authors PMID Year
1
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. 56 61
26032025 2015
2
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. 56 61
18616733 2008
3
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. 56
25660031 2015
4
Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion. 56
24628666 2014
5
A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types. 56
17702012 2007
6
New mesomelic dysplasia with absent fibulae and triangular tibiae. 56
10982484 2000
7
Congenital transverse deficiency of the tibia and fibula: a report of two cases. 56
10855476 2000

Variations for Mesomelic Dysplasia, Savarirayan Type

Expression for Mesomelic Dysplasia, Savarirayan Type

Search GEO for disease gene expression data for Mesomelic Dysplasia, Savarirayan Type.

Pathways for Mesomelic Dysplasia, Savarirayan Type

GO Terms for Mesomelic Dysplasia, Savarirayan Type

Sources for Mesomelic Dysplasia, Savarirayan 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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