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Skeletal dysplasia-epilepsy-short stature syndrome

MedGen UID:
208660
•Concept ID:
C0796046
•
Disease or Syndrome
Synonyms: Gurrieri syndrome; Gurrieri-Sammito-Bellussi syndrome; Mental retardation, epilepsy, short stature and skeletal dysplasia
SNOMED CT: Gurrieri Sammito Bellussi syndrome (715428003); Skeletal dysplasia with epilepsy and short stature syndrome (715428003)
 
Monarch Initiative: MONDO:0011011
OMIM®: 601187
Orphanet: ORPHA1858

Definition

Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Clinical features

From HPO
Hypoplastic acetabulae
MedGen UID:
375890
•Concept ID:
C1846442
•
Finding
Underdeveloped acetabulae.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Skeletal dysplasia
MedGen UID:
98053
•Concept ID:
C0410528
•
Disease or Syndrome
A general term describing features characterized by abnormal development of bones and connective tissues.
See: Feature record | Search on this feature
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
Hypoplastic iliac wing
MedGen UID:
351279
•Concept ID:
C1865027
•
Anatomical Abnormality
Underdevelopment of the ilium ala.
See: Feature record | Search on this feature
Decreased anterioposterior diameter of lumbar vertebral bodies
MedGen UID:
870714
•Concept ID:
C4025168
•
Finding
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSkeletal dysplasia-epilepsy-short stature syndrome
Follow this link to review classifications for Skeletal dysplasia-epilepsy-short stature syndrome in Orphanet.

Professional guidelines

PubMed

Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
Am J Hum Genet 2002 Jun;70(6):1555-63. Epub 2002 May 1 doi: 10.1086/340847. PMID: 11992261Free PMC Article

Recent clinical studies

Etiology

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N
J Genet Genomics 2021 May 20;48(5):396-402. Epub 2021 Mar 22 doi: 10.1016/j.jgg.2021.02.008. PMID: 34006472
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Genetic short stature.
Grunauer M, Jorge AAL
Growth Horm IGF Res 2018 Feb;38:29-33. Epub 2017 Dec 6 doi: 10.1016/j.ghir.2017.12.003. PMID: 29249624
Definition and classification of cancer cachexia: an international consensus.
Fearon K, Strasser F, Anker SD, Bosaeus I, Bruera E, Fainsinger RL, Jatoi A, Loprinzi C, MacDonald N, Mantovani G, Davis M, Muscaritoli M, Ottery F, Radbruch L, Ravasco P, Walsh D, Wilcock A, Kaasa S, Baracos VE
Lancet Oncol 2011 May;12(5):489-95. Epub 2011 Feb 4 doi: 10.1016/S1470-2045(10)70218-7. PMID: 21296615

Diagnosis

Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M
Arch Dis Child 2022 Dec;107(12):1073-1078. Epub 2022 Mar 4 doi: 10.1136/archdischild-2021-322858. PMID: 35246453Free PMC Article
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS
N Engl J Med 2021 Oct 21;385(17):1581-1592. Epub 2021 Oct 6 doi: 10.1056/NEJMoa2103329. PMID: 34614324
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
New developments in the genetic diagnosis of short stature.
Jee YH, Baron J, Nilsson O
Curr Opin Pediatr 2018 Aug;30(4):541-547. doi: 10.1097/MOP.0000000000000653. PMID: 29787394Free PMC Article
Definition and classification of cancer cachexia: an international consensus.
Fearon K, Strasser F, Anker SD, Bosaeus I, Bruera E, Fainsinger RL, Jatoi A, Loprinzi C, MacDonald N, Mantovani G, Davis M, Muscaritoli M, Ottery F, Radbruch L, Ravasco P, Walsh D, Wilcock A, Kaasa S, Baracos VE
Lancet Oncol 2011 May;12(5):489-95. Epub 2011 Feb 4 doi: 10.1016/S1470-2045(10)70218-7. PMID: 21296615

Therapy

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Long-term effects and significant Adverse Drug Reactions (ADRs) associated with the use of Gonadotropin-Releasing Hormone analogs (GnRHa) for central precocious puberty: a brief review of literature.
De Sanctis V, Soliman AT, Di Maio S, Soliman N, Elsedfy H
Acta Biomed 2019 Sep 6;90(3):345-359. doi: 10.23750/abm.v90i3.8736. PMID: 31580327Free PMC Article
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Definition and classification of cancer cachexia: an international consensus.
Fearon K, Strasser F, Anker SD, Bosaeus I, Bruera E, Fainsinger RL, Jatoi A, Loprinzi C, MacDonald N, Mantovani G, Davis M, Muscaritoli M, Ottery F, Radbruch L, Ravasco P, Walsh D, Wilcock A, Kaasa S, Baracos VE
Lancet Oncol 2011 May;12(5):489-95. Epub 2011 Feb 4 doi: 10.1016/S1470-2045(10)70218-7. PMID: 21296615

Prognosis

Sarcopenia and chronic liver diseases.
Hsu CS, Kao JH
Expert Rev Gastroenterol Hepatol 2018 Dec;12(12):1229-1244. Epub 2018 Oct 16 doi: 10.1080/17474124.2018.1534586. PMID: 30791794
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S
Mol Genet Metab 2018 Sep;125(1-2):18-37. Epub 2018 May 15 doi: 10.1016/j.ymgme.2018.05.004. PMID: 29779902Free PMC Article
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA
Annu Rev Genomics Hum Genet 2015;16:199-227. Epub 2015 Apr 22 doi: 10.1146/annurev-genom-090314-045904. PMID: 25939055Free PMC Article
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Clinical prediction guides

Organ Abnormalities Caused by Turner Syndrome.
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS
N Engl J Med 2021 Oct 21;385(17):1581-1592. Epub 2021 Oct 6 doi: 10.1056/NEJMoa2103329. PMID: 34614324
Long-term effects and significant Adverse Drug Reactions (ADRs) associated with the use of Gonadotropin-Releasing Hormone analogs (GnRHa) for central precocious puberty: a brief review of literature.
De Sanctis V, Soliman AT, Di Maio S, Soliman N, Elsedfy H
Acta Biomed 2019 Sep 6;90(3):345-359. doi: 10.23750/abm.v90i3.8736. PMID: 31580327Free PMC Article
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article

Recent systematic reviews

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Recombinant growth hormone for children and adolescents with Turner syndrome.
Baxter L, Bryant J, Cave CB, Milne R
Cochrane Database Syst Rev 2007 Jan 24;(1):CD003887. doi: 10.1002/14651858.CD003887.pub2. PMID: 17253498
Recombinant growth hormone in children and adolescents with Turner syndrome.
Cave CB, Bryant J, Milne R
Cochrane Database Syst Rev 2003;(3):CD003887. doi: 10.1002/14651858.CD003887. PMID: 12917993

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