Mesomelic dysplasia, Savarirayan type

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.9%)		 18616733
 Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S.
Clin Genet. 2008;74(6):560-5.
Failure to thrive Fibular aplasia
AFF3
Animals Bone Diseases Chromosome Deletion Chromosomes, Human, Pair 2 Congenital Foot Deformity Females Fibula Gene Expression Regulation, Developmental Homo sapiens In Situ Hybridization Infant Infant, Newborn Mus Nuclear Proteins
2
(45.7%)		 26032025
 Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
Flottmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M.
J Med Genet. 2015;52(7):476-83.
Intellectual disability Mesomelia
CDKAL1 E2F3 ID4 MBOAT1 SOX4
Acetyltransferase Base Sequence Chromosome Aberrations Chromosomes, Human, Pair 6 Cyclin-Dependent Kinase 5 E2F3 Transcription Factor Fibula Homo sapiens Inhibitor of Differentiation Proteins Leg Membrane Proteins Molecular Sequence Data Osteochondrodysplasias Real-Time Polymerase Chain Reaction SOXC Transcription Factors Sequence Analysis, DNA Sequence Deletion tRNA Methyltransferases
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0002868 Narrow iliac wings Very frequent (99-80%)
HP:0002990 Fibular aplasia Very frequent (99-80%)
HP:0003027 Mesomelia Very frequent (99-80%)
HP:0004018 Flared radial metaphysis Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006413 Broad tibial metaphyses Very frequent (99-80%)
HP:0006434 Hypoplasia of proximal radius Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0006633 Glenoid fossa hypoplasia Very frequent (99-80%)
HP:0008808 High iliac wings Very frequent (99-80%)
HP:0010508 Metatarsus valgus Very frequent (99-80%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID