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Mesomelic dysplasia, Savarirayan type

MedGen UID:
343129
Concept ID:
C1854470
Disease or Syndrome
Synonyms: Mesomelic dysplasia with absent fibulas and triangular tibias; Triangular tibia and fibular aplasia
SNOMED CT: Mesomelic dysplasia Savarirayan type (715652002); Mesomelic dysplasia with absent fibula and triangular tibia (715652002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0011530
OMIM®: 605274
Orphanet: ORPHA85170

Definition

Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. [from SNOMEDCT_US]

Clinical features

From HPO
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
An abnormality affecting one or both hands.
Dislocated radial head
MedGen UID:
488814
Concept ID:
C0265563
Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Talipes equinovalgus
MedGen UID:
78567
Concept ID:
C0265642
Congenital Abnormality
A deformity of foot and ankle in which the foot is bent down and outwards.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Anterior tibial bowing
MedGen UID:
350550
Concept ID:
C1861937
Finding
An abnormal anterior bending or curvature of the tibia.
Mesomelic leg shortening
MedGen UID:
369436
Concept ID:
C1969178
Finding
Shortening of the middle parts of the leg in relation to the upper and terminal segments.
Absent tibia
MedGen UID:
478374
Concept ID:
C3276744
Finding
Absence of the tibia.
Limited elbow extension and supination
MedGen UID:
870670
Concept ID:
C4025124
Finding
Short forearm
MedGen UID:
1632880
Concept ID:
C4551978
Anatomical Abnormality
Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.
Abnormal foot morphology
MedGen UID:
1762829
Concept ID:
C5399834
Anatomical Abnormality
An abnormality of the skeleton of foot.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Hypoplastic pubic bone
MedGen UID:
355894
Concept ID:
C1865030
Finding
Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
Delayed closure of the anterior fontanelle
MedGen UID:
825928
Concept ID:
C3840083
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelic dysplasia, Savarirayan type
Follow this link to review classifications for Mesomelic dysplasia, Savarirayan type in Orphanet.

Recent clinical studies

Etiology

Flöttmann 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 Jul;52(7):476-83. Epub 2015 Jun 1 doi: 10.1136/jmedgenet-2015-103108. PMID: 26032025

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