Mesomelic dysplasia, Savarirayan type

General Information (adopted from Orphanet):

Synonyms, Signs: Triangular tibia - fibular aplasia
mesomelic dysplasia with absent fibulas and triangular tibias
Number of Symptoms 34
OrphanetNr: 85170
OMIM Id: 605274
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
4
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
5
 (HPO:0001760) Abnormality of the foot 96 / 7739
6
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
7
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
8
 (HPO:0002827) Hip dislocation 94 / 7739
9
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
10
 (HPO:0001772) Talipes equinovalgus 7 / 7739
11
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
12
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
13
 (HPO:0005736) Short tibia 19 / 7739
14
 (HPO:0002990) Fibular aplasia 16 / 7739
15
 (HPO:0004684) Talipes valgus Very frequent [Orphanet] 28 / 7739
16
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
17
 (HPO:0000765) Abnormality of the thorax 64 / 7739
18
 (HPO:0003083) Dislocated radial head 35 / 7739
19
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
20
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (OMIM) Proximal widening of ulna 1 / 7739
24
 (OMIM) Normal tarsal 3 / 7739
25
 (OMIM) Normal hands 2 / 7739
26
 (OMIM) Tall, narrow ilia 2 / 7739
27
 (OMIM) Normal phalanges 2 / 7739
28
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
29
 (OMIM) Hypoplastic glenoid 1 / 7739
30
 (OMIM) Oval or triangular-shaped tibia 1 / 7739
31
 (OMIM) Widened sacro-sciatic notch 1 / 7739
32
 (OMIM) Normal metatarsals 1 / 7739
33
 (OMIM) Equinovalgus 2 / 7739
34
 (OMIM) Hypoplastic acetabular roof 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Savarirayan et al. (2000) reported 2 unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulas and severely hypoplastic, triangular-shaped tibias. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnas. ...