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Short stature, Brussels type

MedGen UID:
318625
•Concept ID:
C1832439
•
Disease or Syndrome
Synonyms: Familial short stature with facial dysmorphism and osteochondrodysplastic lesions; Mievis Verellen-Dumoulin syndrome; Short stature syndrome, Brussels type
SNOMED CT: Short stature Brussels type (719213009); Mievis Verellen Dumoulin syndrome (719213009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011046
OMIM®: 601350
Orphanet: ORPHA2867

Definition

This syndrome has characteristics of short stature presenting in the neonatal period, associated with osteochondrodysplastic lesions and facial dysmorphism. It has been described in two members from the same family. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature, Brussels type
Follow this link to review classifications for Short stature, Brussels type in Orphanet.

Recent clinical studies

Etiology

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial.
Battelino T, Rasmussen MH, De Schepper J, Zuckerman-Levin N, Gucev Z, Sävendahl L; NN8640-4042 Study Group
Clin Endocrinol (Oxf) 2017 Oct;87(4):350-358. Epub 2017 Aug 8 doi: 10.1111/cen.13409. PMID: 28656605
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article
Antenatal diagnosis of short-limb dwarfism: sonographic approach.
Avni EF, Rypens F, Zappa M, Donner C, Vanregemorter N, Cohen E
Pediatr Radiol 1996;26(3):171-8. doi: 10.1007/BF01405292. PMID: 8599003

Diagnosis

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Sabir AH, Singhal J, Man J, Mensah NE, Ahn JW, Cheung MS, Irving M
Clin Dysmorphol 2021 Jul 1;30(3):154-158. doi: 10.1097/MCD.0000000000000369. PMID: 33605604
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Giabicani E, Willems M, Steunou V, Chantot-Bastaraud S, Thibaud N, Abi Habib W, Azzi S, Lam B, Bérard L, Bony-Trifunovic H, Brachet C, Brischoux-Boucher E, Caldagues E, Coutant R, Cuvelier ML, Gelwane G, Guemas I, Houang M, Isidor B, Jeandel C, Lespinasse J, Naud-Saudreau C, Jesuran-Perelroizen M, Perrin L, Piard J, Sechter C, Souchon PF, Storey C, Thomas D, Le Bouc Y, Rossignol S, Netchine I, Brioude F
J Med Genet 2020 Mar;57(3):160-168. Epub 2019 Oct 5 doi: 10.1136/jmedgenet-2019-106328. PMID: 31586944
Adult growth hormone deficiency in CEE region: Heterogeneity of the patient pathway.
Shimon I, Badiu C, Bossowski A, Doknic M, Dzivite-Krisane I, Hána V, Kollerova J, Natchev E, Pfeifer M, Szũcs N, Hey-Hadavi J, Gomez R
Growth Horm IGF Res 2019 Jun-Aug;46-47:44-49. Epub 2019 Jun 7 doi: 10.1016/j.ghir.2019.06.001. PMID: 31234055
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article
Antenatal diagnosis of short-limb dwarfism: sonographic approach.
Avni EF, Rypens F, Zappa M, Donner C, Vanregemorter N, Cohen E
Pediatr Radiol 1996;26(3):171-8. doi: 10.1007/BF01405292. PMID: 8599003

Therapy

Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial.
Battelino T, Rasmussen MH, De Schepper J, Zuckerman-Levin N, Gucev Z, Sävendahl L; NN8640-4042 Study Group
Clin Endocrinol (Oxf) 2017 Oct;87(4):350-358. Epub 2017 Aug 8 doi: 10.1111/cen.13409. PMID: 28656605
Selenium deficiency mitigates hypothyroxinemia in iodine-deficient subjects.
Vanderpas JB, Contempré B, Duale NL, Deckx H, Bebe N, Longombé AO, Thilly CH, Diplock AT, Dumont JE
Am J Clin Nutr 1993 Feb;57(2 Suppl):271S-275S. doi: 10.1093/ajcn/57.2.271S. PMID: 8427203
Comparative study of the changes in insulin-like growth factor-I, procollagen-III N-terminal extension peptide, bone Gla-protein, and bone mineral content in children with Turner's syndrome treated with recombinant growth hormone.
Bergmann P, Valsamis J, Van Perborgh J, De Schepper J, Van Vliet G
J Clin Endocrinol Metab 1990 Dec;71(6):1461-7. doi: 10.1210/jcem-71-6-1461. PMID: 2229302

Prognosis

Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M
PLoS Genet 2013 Oct;9(10):e1003888. Epub 2013 Oct 31 doi: 10.1371/journal.pgen.1003888. PMID: 24204302Free PMC Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG
Nat Genet 2000 Aug;25(4):423-6. doi: 10.1038/78113. PMID: 10932187
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C
J Clin Invest 1997 Jun 15;99(12):3018-24. doi: 10.1172/JCI119497. PMID: 9185526Free PMC Article

Clinical prediction guides

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Giabicani E, Willems M, Steunou V, Chantot-Bastaraud S, Thibaud N, Abi Habib W, Azzi S, Lam B, Bérard L, Bony-Trifunovic H, Brachet C, Brischoux-Boucher E, Caldagues E, Coutant R, Cuvelier ML, Gelwane G, Guemas I, Houang M, Isidor B, Jeandel C, Lespinasse J, Naud-Saudreau C, Jesuran-Perelroizen M, Perrin L, Piard J, Sechter C, Souchon PF, Storey C, Thomas D, Le Bouc Y, Rossignol S, Netchine I, Brioude F
J Med Genet 2020 Mar;57(3):160-168. Epub 2019 Oct 5 doi: 10.1136/jmedgenet-2019-106328. PMID: 31586944
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M
PLoS Genet 2013 Oct;9(10):e1003888. Epub 2013 Oct 31 doi: 10.1371/journal.pgen.1003888. PMID: 24204302Free PMC Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG
Nat Genet 2000 Aug;25(4):423-6. doi: 10.1038/78113. PMID: 10932187

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