MCID: MSM019
MIFTS: 21

Mesomelic Dysplasia, Savarirayan Type

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Mesomelic Dysplasia, Savarirayan Type

MalaCards integrated aliases for Mesomelic Dysplasia, Savarirayan Type:

Name: Mesomelic Dysplasia, Savarirayan Type 57 59
Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias 57 53 59
Triangular Tibia-Fibular Aplasia Syndrome 59
Mesomelic Dysplasia Savarirayan Type 53
Triangular Tibia and Fibular Aplasia 53

Characteristics:

Orphanet epidemiological data:

59
mesomelic dysplasia, savarirayan type
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mesomelic dysplasia, savarirayan type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605274
Orphanet 59 ORPHA85170
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 74 C1854470
MedGen 42 C1854470

Summaries for Mesomelic Dysplasia, Savarirayan Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85170Disease definitionMesomelic 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, is also known as mesomelic dysplasia with absent fibulas and triangular tibias. 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 hip dislocation

Description from OMIM: 605274

Related Diseases for Mesomelic Dysplasia, Savarirayan Type

Symptoms & Phenotypes for Mesomelic Dysplasia, Savarirayan Type

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mesomelic Dysplasia, Savarirayan Type:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
2 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
3 narrow iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0002868
4 fibular aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002990
5 mesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003027
6 flared radial metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004018
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 broad tibial metaphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0006413
9 hypoplasia of proximal radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0006434
10 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
11 glenoid fossa hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006633
12 high iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008808
13 metatarsus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010508
14 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
15 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
16 abnormality of the thorax 32 HP:0000765
17 global developmental delay 32 HP:0001263
18 delayed closure of the anterior fontanelle 32 HP:0001476
19 abnormality of the foot 32 HP:0001760
20 talipes equinovalgus 32 HP:0001772
21 dislocated radial head 32 HP:0003083
22 short tibia 32 HP:0005736

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:

41
Bone

Publications for Mesomelic Dysplasia, Savarirayan Type

Articles related to Mesomelic Dysplasia, Savarirayan Type:

# Title Authors Year
1
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. ( 26032025 )
2015
2
New mesomelic dysplasia with absent fibulae and triangular tibiae. ( 10982484 )
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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