U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dwarfism with tall vertebrae

MedGen UID:
338839
•Concept ID:
C1851996
•
Disease or Syndrome
Synonyms: Dwarfism tall vertebrae; Dwarfism with disproportionately high vertebral bodies; Short stature and tall vertebrae
 
Monarch Initiative: MONDO:0020792
OMIM®: 126950

Clinical features

From HPO
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Increased vertebral height
MedGen UID:
400628
•Concept ID:
C1864853
•
Finding
Increased top to bottom height of vertebral bodies.
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O
Eur J Med Genet 2021 Dec;64(12):104346. Epub 2021 Sep 28 doi: 10.1016/j.ejmg.2021.104346. PMID: 34597859
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316

Diagnosis

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O
Eur J Med Genet 2021 Dec;64(12):104346. Epub 2021 Sep 28 doi: 10.1016/j.ejmg.2021.104346. PMID: 34597859
3-M Syndrome: A Local Case Report.
HabibUllah H, Al-Baradie R, Bashir S
Am J Case Rep 2019 Jan 9;20:36-38. doi: 10.12659/AJCR.912736. PMID: 30622233Free PMC Article
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Pseudoachondroplasia with cerebral and renal cysts.
Stoll C
Genet Couns 2002;13(2):139-46. PMID: 12150213

Therapy

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article

Prognosis

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316

Clinical prediction guides

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Tüysüz B, Alp Ünkar Z, Turan H, Gezdirici A, Uludağ Alkaya D, Kasap B, Yeşil G, Vural M, Ercan O
Eur J Med Genet 2021 Dec;64(12):104346. Epub 2021 Sep 28 doi: 10.1016/j.ejmg.2021.104346. PMID: 34597859
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.
Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M
Ital J Pediatr 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21. PMID: 23517720Free PMC Article
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...