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Mesomelic dwarfism-cleft palate-camptodactyly syndrome

MedGen UID:
340833
•Concept ID:
C1855273
•
Disease or Syndrome
Synonyms: Kozlowski-Reardon mesomelic displasia; Mesomelic limb shortening and bowing
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009589
OMIM®: 249710
Orphanet: ORPHA2631

Definition

A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. [from ORDO]

Clinical features

From HPO
Mesomelic arm shortening
MedGen UID:
350587
•Concept ID:
C1862087
•
Finding
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
See: Feature record | Search on this feature
Mesomelic leg shortening
MedGen UID:
369436
•Concept ID:
C1969178
•
Finding
Shortening of the middle parts of the leg in relation to the upper and terminal segments.
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Retrognathia
MedGen UID:
19766
•Concept ID:
C0035353
•
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
Camptodactyly of finger
MedGen UID:
98041
•Concept ID:
C0409348
•
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
See: Feature record | Search on this feature
Bowing of the arm
MedGen UID:
488899
•Concept ID:
C0426863
•
Finding
A bending or abnormal curvature affecting a long bone of the arm.
See: Feature record | Search on this feature
Bowing of the legs
MedGen UID:
1807399
•Concept ID:
C5574706
•
Finding
A bending or abnormal curvature affecting a long bone of the leg.
See: Feature record | Search on this feature
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesomelic dwarfism-cleft palate-camptodactyly syndrome

Professional guidelines

PubMed

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
Auger J, Baptiste A, Benabbad I, Thierry G, Costa JM, Amouyal M, Kottler ML, Leheup B, Touraine R, Schmitt S, Lebrun M, Cormier Daire V, Bonnefont JP, de Roux N, Elie C, Rosilio M
Horm Res Paediatr 2016;86(5):309-318. Epub 2016 Sep 28 doi: 10.1159/000448282. PMID: 27676402
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Prenatal sonographic diagnosis of focal musculoskeletal anomalies.
Ryu JK, Cho JY, Choi JS
Korean J Radiol 2003 Oct-Dec;4(4):243-51. doi: 10.3348/kjr.2003.4.4.243. PMID: 14726642Free PMC Article

Recent clinical studies

Etiology

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):358-365. Epub 2020 Apr 16 doi: 10.4274/jcrpe.galenos.2020.2019.0001. PMID: 32295321Free PMC Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE
Eur J Hum Genet 2011 Dec;19(12):1218-25. Epub 2011 Jun 29 doi: 10.1038/ejhg.2011.128. PMID: 21712857Free PMC Article
Bone dysplasias: the A, B, C of radiographic interpretation.
Castriota-Scanderbeg A
J Endocrinol Invest 2010 Jun;33(6 Suppl):26-9. PMID: 21057182
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.
Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A
Am J Med Genet A 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. PMID: 19725128
Heterozygous manifestations of Langer mesomelic dysplasia.
Goldblatt J, Wallis C, Viljoen D, Beighton P
Clin Genet 1987 Jan;31(1):19-24. doi: 10.1111/j.1399-0004.1987.tb02762.x. PMID: 3568430

Diagnosis

A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.
Lim BC, Min BJ, Park WY, Oh SK, Woo MJ, Choi JS, Kim KJ, Hwang YS, Chae JH
J Child Neurol 2014 Feb;29(2):260-4. Epub 2013 Mar 1 doi: 10.1177/0883073813478659. PMID: 23456534
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE
Eur J Med Genet 2010 Jul-Aug;53(4):204-7. Epub 2010 Apr 20 doi: 10.1016/j.ejmg.2010.04.003. PMID: 20412871
Congenital conductive hearing loss in dyschondrosteosis.
De Leenheer EM, Oudesluijs GG, Kuijpers-Jagtman AM, Rappold GA, Sengers RC, Cremers CW
Ann Otol Rhinol Laryngol 2003 Feb;112(2):153-8. doi: 10.1177/000348940311200208. PMID: 12597288
First-trimester diagnosis of Robinow syndrome.
Percin EF, Guvenal T, Cetin A, Percin S, Goze F, Arici S
Fetal Diagn Ther 2001 Sep-Oct;16(5):308-11. doi: 10.1159/000053933. PMID: 11509854
Robinow syndrome.
Singh SK, Bhadada SK, Singh R, Sinha SK, Singh SK, Agrawal JK
J Assoc Physicians India 2000 Aug;48(8):836-7. PMID: 11273483

Therapy

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.
Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF
Horm Res Paediatr 2015;84(1):14-25. Epub 2015 May 6 doi: 10.1159/000381712. PMID: 25967354
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.
Shah BC, Moran ES, Zinn AR, Pappas JG
J Clin Endocrinol Metab 2009 Dec;94(12):5028-33. Epub 2009 Oct 22 doi: 10.1210/jc.2009-0679. PMID: 19850687
Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
Blum WF, Cao D, Hesse V, Fricke-Otto S, Ross JL, Jones C, Quigley CA, Binder G
Horm Res 2009;71(3):167-72. Epub 2009 Feb 3 doi: 10.1159/000197874. PMID: 19188742
Anaesthetic implications of Robinow syndrome.
Lirk P, Rieder J, Schuerholz A, Keller C
Paediatr Anaesth 2003 Oct;13(8):725-7. doi: 10.1046/j.1460-9592.2003.01123.x. PMID: 14535914
Anaesthetic implications of the child with Robinow syndrome.
Sleesman JB, Tobias JD
Paediatr Anaesth 2003 Sep;13(7):629-32. doi: 10.1046/j.1460-9592.2003.01132.x. PMID: 12950866

Prognosis

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):358-365. Epub 2020 Apr 16 doi: 10.4274/jcrpe.galenos.2020.2019.0001. PMID: 32295321Free PMC Article
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
Albuisson J, Schmitt S, Baron S, Bézieau S, Benito-Sanz S, Heath KE
Eur J Hum Genet 2012 Aug;20(8) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.64. PMID: 22510850Free PMC Article
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A
Hum Mutat 2012 Jul;33(7):1063-6. Epub 2012 May 11 doi: 10.1002/humu.22097. PMID: 22495965Free PMC Article
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.
Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A
Am J Med Genet A 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926. PMID: 19725128
Heterozygous manifestations of Langer mesomelic dysplasia.
Goldblatt J, Wallis C, Viljoen D, Beighton P
Clin Genet 1987 Jan;31(1):19-24. doi: 10.1111/j.1399-0004.1987.tb02762.x. PMID: 3568430

Clinical prediction guides

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A
Hum Mutat 2012 Jul;33(7):1063-6. Epub 2012 May 11 doi: 10.1002/humu.22097. PMID: 22495965Free PMC Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE
Eur J Hum Genet 2011 Dec;19(12):1218-25. Epub 2011 Jun 29 doi: 10.1038/ejhg.2011.128. PMID: 21712857Free PMC Article
SHOX: growth, Léri-Weill and Turner syndromes.
Blaschke RJ, Rappold GA
Trends Endocrinol Metab 2000 Aug;11(6):227-30. doi: 10.1016/s1043-2760(00)00262-9. PMID: 10878753
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A
Acta Paediatr Suppl 1999 Dec;88(433):55-9. doi: 10.1111/j.1651-2227.1999.tb14404.x. PMID: 10626546
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V
Nat Genet 1998 May;19(1):67-9. doi: 10.1038/ng0198-67. PMID: 9590292

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