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Spondyloepimetaphyseal dysplasia, Isidor-Toutain type(SEMDIST)

MedGen UID:
1684771
•Concept ID:
C5231478
•
Disease or Syndrome
Synonyms: SEMDIST; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
 
Gene (location): RPL13 (16q24.3)
 
Monarch Initiative: MONDO:0032885
OMIM®: 618728

Definition

The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019). [from OMIM]

Clinical features

From HPO
Genu varum
MedGen UID:
154257
•Concept ID:
C0544755
•
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
See: Feature record | Search on this feature
Upper-limb metaphyseal irregularity
MedGen UID:
867356
•Concept ID:
C4021720
•
Finding
See: Feature record | Search on this feature
Coxa vara
MedGen UID:
1790477
•Concept ID:
C5551440
•
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
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Postnatal growth retardation
MedGen UID:
395343
•Concept ID:
C1859778
•
Finding
Slow or limited growth after birth.
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Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
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Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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Platyspondyly
MedGen UID:
335010
•Concept ID:
C1844704
•
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
See: Feature record | Search on this feature
Irregular femoral epiphysis
MedGen UID:
340592
•Concept ID:
C1850658
•
Finding
See: Feature record | Search on this feature
Short long bone
MedGen UID:
344385
•Concept ID:
C1854912
•
Finding
One or more abnormally short long bone.
See: Feature record | Search on this feature
Enlarged metaphyses
MedGen UID:
344520
•Concept ID:
C1855544
•
Finding
Abnormal increase in size of one or more metaphyses.
See: Feature record | Search on this feature
Lower-limb metaphyseal irregularity
MedGen UID:
868143
•Concept ID:
C4022534
•
Anatomical Abnormality
Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.
See: Feature record | Search on this feature
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Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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