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Infancy onset short-trunk short stature

MedGen UID:: 337497
•Concept ID:: C1846061
•: Finding

Synonym:	Short-trunk dwarfism, identifiable in infancy

HPO:	HP:0011406

Definition

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInfancy onset short-trunk short stature

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Abnormal axial skeleton morphology
        Disproportionate short-trunk short stature
        Infancy onset short-trunk short stature

Recent clinical studies

Diagnosis

Wolcott-Rallison syndrome.

Juneja A, Sultan A, Bhatnagar S
J Indian Soc Pedod Prev Dent 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019. PMID: 23263430

Kyphomelic dysplasia: the first 10 cases.

Turnpenny PD, Dakwar RA, Boulos FN
J Med Genet 1990 Apr;27(4):269-72. doi: 10.1136/jmg.27.4.269. PMID: 2109078 Free PMC Article

Supplemental Content

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Clinical resources

ClinicalTrials.gov

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MedlinePlus

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Infancy onset short-trunk short stature
Infancy onset short-trunk short stature

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C1846061[conceptid] (1)
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