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Dysostosis

MedGen UID:: 4430
•Concept ID:: C0013393
•: Disease or Syndrome

Synonym:	Dysostoses
SNOMED CT:	Dysostosis (109420003)

Monarch Initiative:	MONDO:0018234
Orphanet:	ORPHA364559

Definition

A defect in ossification of bone. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDysostosis

Disease
- Disorder by Site
  - Connective and Soft Tissue Disorder
    - Musculoskeletal system disorder
      - Disorder of bone
        Bone development disease
        Dysostosis
        Acrofacial dysostosis
        Acrocraniofacial dysostosis
        Acrodysostosis with multiple hormone resistance
        Acrofacial dysostosis Rodriguez type
        Acrofacial dysostosis, Catania type
        Acrofacial dysostosis, Kennedy-Teebi type
        Acrofacial dysostosis, Palagonia type
        Acrofrontofacionasal dysostosis
        Acrofrontofacionasal dysostosis 1
        Acrofrontofacionasal dysostosis type 2
        Acromelic frontonasal dysostosis
        Craniofrontonasal syndrome
        Curry-Hall syndrome
        Mandibulofacial dysostosis-microcephaly syndrome
        Miller syndrome
        Nager syndrome
        Patterson-Stevenson-Fontaine syndrome
        Richieri Costa-Pereira syndrome
        X-linked mandibulofacial dysostosis
        Congenital pseudoarthrosis of clavicle
        Crouzon syndrome
        Congenital craniofacial dysostosis
        Hallermann-Streiff syndrome
        Hypertelorism
        Mandibulofacial dysostosis
        Acrodysostosis
        Mandibulofacial dysostosis with alopecia
        Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
        Treacher Collins syndrome
        Focal dermal hypoplasia
        Klippel-Feil syndrome
        Isolated Klippel-Feil syndrome
        Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
        Klippel-Feil syndrome 1, autosomal dominant
        Klippel-Feil syndrome 2, autosomal recessive
        Klippel-Feil syndrome 3, autosomal dominant
        Orofaciodigital syndrome
        Mohr syndrome
        Oral-facial-digital syndrome with short stature and brachymesophalangy
        Orofacial-digital syndrome III
        Orofacial-digital syndrome IV
        Orofaciodigital syndrome I
        Orofaciodigital syndrome IX
        Orofaciodigital syndrome type 6
        Orofaciodigital syndrome type 12
        Orofaciodigital syndrome type 13
        Orofaciodigital syndrome type 14
        Orofaciodigital syndrome V
        Orofaciodigital syndrome VIII
        Orofaciodigital syndrome X
        Orofaciodigital syndrome XI
        Rubinstein-Taybi syndrome
        Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
        Rubinstein-Taybi syndrome due to CREBBP mutations
        Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
        Spondylocostal dysostosis
        Autosomal recessive spondylocostal dysostosis
        Spondylocostal dysostosis 1, autosomal recessive
        Spondylocostal dysostosis 2, autosomal recessive
        Spondylocostal dysostosis 3, autosomal recessive
        Spondylocostal dysostosis 4, autosomal recessive
        Spondylocostal dysostosis 5
        Synostosis
        Antley-Bixler Syndrome Phenotype
        Craniosynostosis syndrome
        Acrocephalosyndactyly
        Coronal craniosynostosis
        Craniosynostosis 2
        Craniosynostosis 4
        Multiple suture craniosynostosis
        Sagittal craniosynostosis
        Squamosal suture synostosis
        TCF12-related craniosynostosis
        TWIST1-related craniosynostosis
        Syndactyly
        Cryptophthalmos syndrome
        Cutaneous syndactyly
        Finger syndactyly
        Non-syndromic syndactyly
        Poland anomaly
        Tarsal synostosis
        Calcaneonavicular fusion
        Coalescence of tarsal bones
        Partial fusion of tarsals
        Talocalcaneal synostosis
        Tarsometatarsal synostosis

Professional guidelines

PubMed

The diagnosis and management of mucopolysaccharidosis type II.

Mao SJ, Chen QQ, Dai YL, Dong GP, Zou CC
Ital J Pediatr 2024 Oct 8;50(1):207. doi: 10.1186/s13052-024-01769-9. PMID: 39380047 Free PMC Article

Treacher Collins Syndrome: Genetics, Clinical Features and Management.

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374 Free PMC Article

Chest wall hypoplasia--principles and treatment.

Mayer OH
Paediatr Respir Rev 2015 Jan;16(1):30-4. Epub 2014 Nov 5 doi: 10.1016/j.prrv.2014.10.012. PMID: 25434647

See all (31)

Recent clinical studies

Etiology

Apert Syndrome: Selection Rationale for Midface Advancement Technique.

Raposo-Amaral CE, Ghizoni E, Raposo-Amaral CA
Adv Tech Stand Neurosurg 2023;46:245-266. doi: 10.1007/978-3-031-28202-7_13. PMID: 37318579

Mucopolysaccharidoses: overview of neuroimaging manifestations.

Nicolas-Jilwan M, AlSayed M
Pediatr Radiol 2018 Sep;48(10):1503-1520. Epub 2018 May 11 doi: 10.1007/s00247-018-4139-3. PMID: 29752520

Progressive Postnatal Pansynostosis.

Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM
Cleft Palate Craniofac J 2015 Nov;52(6):751-7. Epub 2014 Oct 28 doi: 10.1597/14-092. PMID: 25350344

Human facial dysostoses.

Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775

Abnormal craniofacial growth.

Friede H
Acta Odontol Scand 1995 Jun;53(3):203-9. doi: 10.3109/00016359509005973. PMID: 7572098

See all (815)

Diagnosis

Treacher Collins Syndrome: Genetics, Clinical Features and Management.

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374 Free PMC Article

Freeman-Burian syndrome.

Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514 Free PMC Article

Fetal Skeletal Disorders.

Schramm T, Mommsen H
Ultraschall Med 2018 Dec;39(6):610-634. Epub 2018 Sep 6 doi: 10.1055/a-0660-9417. PMID: 30189431

Syndromic Craniosynostosis.

Wang JC, Nagy L, Demke JC
Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. PMID: 27712819

Nager syndrome.

Lansinger Y, Rayan G
J Hand Surg Am 2015 Apr;40(4):851-4. Epub 2014 Dec 24 doi: 10.1016/j.jhsa.2014.10.064. PMID: 25543163

See all (1078)

Therapy

The diagnosis and management of mucopolysaccharidosis type II.

Mao SJ, Chen QQ, Dai YL, Dong GP, Zou CC
Ital J Pediatr 2024 Oct 8;50(1):207. doi: 10.1186/s13052-024-01769-9. PMID: 39380047 Free PMC Article

Mucopolysaccharidosis type I.

Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Complications of frontofacial advancement.

Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

Orthopaedic aspects of mucopolysaccharidoses.

White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667

Orofacial malformations.

Poswillo DE
Proc R Soc Med 1974 May;67(5):343-9. PMID: 4835278 Free PMC Article

See all (191)

Prognosis

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.

W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077

Orthopaedic aspects of mucopolysaccharidoses.

White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667

Mucopolysaccharidosis VI.

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007 Free PMC Article

Alpha-mannosidosis.

Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971 Free PMC Article

Brachydactyly.

Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391 Free PMC Article

See all (459)

Clinical prediction guides

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN
Am J Hum Genet 2023 May 4;110(5):809-825. Epub 2023 Apr 18 doi: 10.1016/j.ajhg.2023.03.014. PMID: 37075751 Free PMC Article

Freeman-Burian syndrome.

Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514 Free PMC Article

Role of Primary Cilia in Odontogenesis.

Hampl M, Cela P, Szabo-Rogers HL, Kunova Bosakova M, Dosedelova H, Krejci P, Buchtova M
J Dent Res 2017 Aug;96(9):965-974. Epub 2017 Jun 12 doi: 10.1177/0022034517713688. PMID: 28605602 Free PMC Article

Sialidoses.

Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198

Acrodysostosis.

Silve C, Clauser E, Linglart A
Horm Metab Res 2012 Sep;44(10):749-58. Epub 2012 Jul 19 doi: 10.1055/s-0032-1316330. PMID: 22815067

See all (496)

Recent systematic reviews

Craniofacial characteristics in Crouzon's syndrome: A systematic review and meta-analysis.

Alam MK, Alfawzan AA, Abutayyem H, Kanwal B, Alswairki HJ, Verma S, Ganji KK, Munisekhar MS, Siddiqui AA, Fahim A
Sci Prog 2023 Jan-Mar;106(1):368504231156297. doi: 10.1177/00368504231156297. PMID: 36803068 Free PMC Article

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.

Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321

Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.

Singh A, Pajni K, Panigrahi I, Khetarpal P
Curr Pediatr Rev 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. PMID: 35293298

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

Complications of frontofacial advancement.

Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

See all (12)

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Dysostosis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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