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Short stature and advanced bone age, with early-onset osteoarthritis

MedGen UID:
1615230
•Concept ID:
C4540542
•
Disease or Syndrome
Synonym: SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS
 
OMIM®: 155760

Professional guidelines

PubMed

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.
Renes JS, Reedijk AMJ, Losekoot M, Kant SG, Van der Steen M, Van der Kaay DCM, Hokken-Koelega ACS, Van Duyvenvoorde HA, de Bruin C
Horm Res Paediatr 2024;97(5):456-469. Epub 2024 Jan 17 doi: 10.1159/000535651. PMID: 38232712
Aggrecanopathies highlight the need for genetic evaluation of ISS children.
Nilsson O
Eur J Endocrinol 2020 Aug;183(2):C9-C10. doi: 10.1530/EJE-20-0420. PMID: 32413843

Recent clinical studies

Etiology

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y
Eur J Med Genet 2020 Dec;63(12):104074. Epub 2020 Sep 24 doi: 10.1016/j.ejmg.2020.104074. PMID: 32980524
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.
Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT
J Endocrinol Invest 2018 Aug;41(8):929-936. Epub 2018 Jan 4 doi: 10.1007/s40618-017-0819-3. PMID: 29302920

Diagnosis

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y
Eur J Med Genet 2020 Dec;63(12):104074. Epub 2020 Sep 24 doi: 10.1016/j.ejmg.2020.104074. PMID: 32980524
Aggrecanopathies highlight the need for genetic evaluation of ISS children.
Nilsson O
Eur J Endocrinol 2020 Aug;183(2):C9-C10. doi: 10.1530/EJE-20-0420. PMID: 32413843

Therapy

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.
Renes JS, Reedijk AMJ, Losekoot M, Kant SG, Van der Steen M, Van der Kaay DCM, Hokken-Koelega ACS, Van Duyvenvoorde HA, de Bruin C
Horm Res Paediatr 2024;97(5):456-469. Epub 2024 Jan 17 doi: 10.1159/000535651. PMID: 38232712
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A
J Clin Endocrinol Metab 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313. PMID: 27870580Free PMC Article

Prognosis

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.
Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT
J Endocrinol Invest 2018 Aug;41(8):929-936. Epub 2018 Jan 4 doi: 10.1007/s40618-017-0819-3. PMID: 29302920

Clinical prediction guides

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A
J Clin Endocrinol Metab 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313. PMID: 27870580Free PMC Article

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