U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Osteoporosis, childhood- or juvenile-onset, with developmental delay(OPDD)

MedGen UID:
1802083
Concept ID:
C5676992
Disease or Syndrome
Synonyms: OPDD; OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY
 
Gene (location): COPB2 (3q23)
 
Monarch Initiative: MONDO:0859253
OMIM®: 619884

Definition

Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable, and includes mild intellectual or learning disabilities as well as wide-based gait and/or gross motor delays. Microcephaly is present in some patients (Marom et al., 2021). [from OMIM]

Clinical features

From HPO
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Simplified gyral pattern
MedGen UID:
413664
Concept ID:
C2749675
Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Focal cortical dysplasia
MedGen UID:
853938
Concept ID:
C2938983
Congenital Abnormality
A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.

Professional guidelines

PubMed

Galindo-Zavala R, Bou-Torrent R, Magallares-López B, Mir-Perelló C, Palmou-Fontana N, Sevilla-Pérez B, Medrano-San Ildefonso M, González-Fernández MI, Román-Pascual A, Alcañiz-Rodríguez P, Nieto-Gonzalez JC, López-Corbeto M, Graña-Gil J
Pediatr Rheumatol Online J 2020 Feb 24;18(1):20. doi: 10.1186/s12969-020-0411-9. PMID: 32093703Free PMC Article
Weaver CM, Gordon CM, Janz KF, Kalkwarf HJ, Lappe JM, Lewis R, O'Karma M, Wallace TC, Zemel BS
Osteoporos Int 2016 Apr;27(4):1281-1386. Epub 2016 Feb 8 doi: 10.1007/s00198-015-3440-3. PMID: 26856587Free PMC Article
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Recent clinical studies

Etiology

Zhu X, Zheng H
Front Med 2021 Feb;15(1):53-69. Epub 2020 Jun 9 doi: 10.1007/s11684-020-0748-y. PMID: 32519297
Weaver CM, Gordon CM, Janz KF, Kalkwarf HJ, Lappe JM, Lewis R, O'Karma M, Wallace TC, Zemel BS
Osteoporos Int 2016 Apr;27(4):1281-1386. Epub 2016 Feb 8 doi: 10.1007/s00198-015-3440-3. PMID: 26856587Free PMC Article
Ip S, Chung M, Raman G, Chew P, Magula N, DeVine D, Trikalinos T, Lau J
Evid Rep Technol Assess (Full Rep) 2007 Apr;(153):1-186. PMID: 17764214Free PMC Article
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142
Krigger KW
Am Fam Physician 2006 Jan 1;73(1):91-100. PMID: 16417071

Diagnosis

Laffel LM, Kanapka LG, Beck RW, Bergamo K, Clements MA, Criego A, DeSalvo DJ, Goland R, Hood K, Liljenquist D, Messer LH, Monzavi R, Mouse TJ, Prahalad P, Sherr J, Simmons JH, Wadwa RP, Weinstock RS, Willi SM, Miller KM; CGM Intervention in Teens and Young Adults with T1D (CITY) Study Group; CDE10
JAMA 2020 Jun 16;323(23):2388-2396. doi: 10.1001/jama.2020.6940. PMID: 32543683Free PMC Article
Galindo-Zavala R, Bou-Torrent R, Magallares-López B, Mir-Perelló C, Palmou-Fontana N, Sevilla-Pérez B, Medrano-San Ildefonso M, González-Fernández MI, Román-Pascual A, Alcañiz-Rodríguez P, Nieto-Gonzalez JC, López-Corbeto M, Graña-Gil J
Pediatr Rheumatol Online J 2020 Feb 24;18(1):20. doi: 10.1186/s12969-020-0411-9. PMID: 32093703Free PMC Article
Barut K, Adrovic A, Şahin S, Kasapçopur Ö
Balkan Med J 2017 Apr 5;34(2):90-101. doi: 10.4274/balkanmedj.2017.0111. PMID: 28418334Free PMC Article
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142
Krigger KW
Am Fam Physician 2006 Jan 1;73(1):91-100. PMID: 16417071

Therapy

Laffel LM, Kanapka LG, Beck RW, Bergamo K, Clements MA, Criego A, DeSalvo DJ, Goland R, Hood K, Liljenquist D, Messer LH, Monzavi R, Mouse TJ, Prahalad P, Sherr J, Simmons JH, Wadwa RP, Weinstock RS, Willi SM, Miller KM; CGM Intervention in Teens and Young Adults with T1D (CITY) Study Group; CDE10
JAMA 2020 Jun 16;323(23):2388-2396. doi: 10.1001/jama.2020.6940. PMID: 32543683Free PMC Article
Galindo-Zavala R, Bou-Torrent R, Magallares-López B, Mir-Perelló C, Palmou-Fontana N, Sevilla-Pérez B, Medrano-San Ildefonso M, González-Fernández MI, Román-Pascual A, Alcañiz-Rodríguez P, Nieto-Gonzalez JC, López-Corbeto M, Graña-Gil J
Pediatr Rheumatol Online J 2020 Feb 24;18(1):20. doi: 10.1186/s12969-020-0411-9. PMID: 32093703Free PMC Article
Barut K, Adrovic A, Şahin S, Kasapçopur Ö
Balkan Med J 2017 Apr 5;34(2):90-101. doi: 10.4274/balkanmedj.2017.0111. PMID: 28418334Free PMC Article
Ip S, Chung M, Raman G, Chew P, Magula N, DeVine D, Trikalinos T, Lau J
Evid Rep Technol Assess (Full Rep) 2007 Apr;(153):1-186. PMID: 17764214Free PMC Article
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

Schraufnagel DE, Balmes JR, Cowl CT, De Matteis S, Jung SH, Mortimer K, Perez-Padilla R, Rice MB, Riojas-Rodriguez H, Sood A, Thurston GD, To T, Vanker A, Wuebbles DJ
Chest 2019 Feb;155(2):417-426. Epub 2018 Nov 9 doi: 10.1016/j.chest.2018.10.041. PMID: 30419237Free PMC Article
Vierucci F, Saggese G, Cimaz R
Curr Opin Rheumatol 2017 Sep;29(5):535-546. doi: 10.1097/BOR.0000000000000423. PMID: 28582319
Barut K, Adrovic A, Şahin S, Kasapçopur Ö
Balkan Med J 2017 Apr 5;34(2):90-101. doi: 10.4274/balkanmedj.2017.0111. PMID: 28418334Free PMC Article
Victora CG, Adair L, Fall C, Hallal PC, Martorell R, Richter L, Sachdev HS; Maternal and Child Undernutrition Study Group
Lancet 2008 Jan 26;371(9609):340-57. doi: 10.1016/S0140-6736(07)61692-4. PMID: 18206223Free PMC Article
Ip S, Chung M, Raman G, Chew P, Magula N, DeVine D, Trikalinos T, Lau J
Evid Rep Technol Assess (Full Rep) 2007 Apr;(153):1-186. PMID: 17764214Free PMC Article

Clinical prediction guides

Carlson AL, Sherr JL, Shulman DI, Garg SK, Pop-Busui R, Bode BW, Lilenquist DR, Brazg RL, Kaiserman KB, Kipnes MS, Thrasher JR, Reed JHC, Slover RH, Philis-Tsimikas A, Christiansen M, Grosman B, Roy A, Vella M, Jonkers RAM, Chen X, Shin J, Cordero TL, Lee SW, Rhinehart AS, Vigersky RA
Diabetes Technol Ther 2022 Mar;24(3):178-189. Epub 2021 Nov 16 doi: 10.1089/dia.2021.0319. PMID: 34694909Free PMC Article
Mäkitie O, Zillikens MC
Calcif Tissue Int 2022 May;110(5):546-561. Epub 2021 Jul 8 doi: 10.1007/s00223-021-00885-6. PMID: 34236445Free PMC Article
Schraufnagel DE, Balmes JR, Cowl CT, De Matteis S, Jung SH, Mortimer K, Perez-Padilla R, Rice MB, Riojas-Rodriguez H, Sood A, Thurston GD, To T, Vanker A, Wuebbles DJ
Chest 2019 Feb;155(2):417-426. Epub 2018 Nov 9 doi: 10.1016/j.chest.2018.10.041. PMID: 30419237Free PMC Article
Victora CG, Adair L, Fall C, Hallal PC, Martorell R, Richter L, Sachdev HS; Maternal and Child Undernutrition Study Group
Lancet 2008 Jan 26;371(9609):340-57. doi: 10.1016/S0140-6736(07)61692-4. PMID: 18206223Free PMC Article
Ip S, Chung M, Raman G, Chew P, Magula N, DeVine D, Trikalinos T, Lau J
Evid Rep Technol Assess (Full Rep) 2007 Apr;(153):1-186. PMID: 17764214Free PMC Article

Recent systematic reviews

Deng KL, Yang WY, Hou JL, Li H, Feng H, Xiao SM
Int J Environ Res Public Health 2021 Nov 18;18(22) doi: 10.3390/ijerph182212126. PMID: 34831882Free PMC Article
Gómez-Bruton A, Matute-Llorente Á, González-Agüero A, Casajús JA, Vicente-Rodríguez G
World J Pediatr 2017 Apr;13(2):112-121. Epub 2017 Jan 15 doi: 10.1007/s12519-016-0076-0. PMID: 28101776
Weaver CM, Gordon CM, Janz KF, Kalkwarf HJ, Lappe JM, Lewis R, O'Karma M, Wallace TC, Zemel BS
Osteoporos Int 2016 Apr;27(4):1281-1386. Epub 2016 Feb 8 doi: 10.1007/s00198-015-3440-3. PMID: 26856587Free PMC Article
Paschou SA, Anagnostis P, Karras S, Annweiler C, Vakalopoulou S, Garipidou V, Goulis DG
Osteoporos Int 2014 Oct;25(10):2399-407. Epub 2014 Jul 8 doi: 10.1007/s00198-014-2773-7. PMID: 25001982
Nikander R, Sievänen H, Heinonen A, Daly RM, Uusi-Rasi K, Kannus P
BMC Med 2010 Jul 21;8:47. doi: 10.1186/1741-7015-8-47. PMID: 20663158Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...