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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
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

Recent clinical studies

Etiology

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Gorbenko-del Blanco D, Rodriguez JI, Benito-Sanz S, Campos-Barros A, Heath KE
PLoS One 2014;9(1):e83104. Epub 2014 Jan 8 doi: 10.1371/journal.pone.0083104. PMID: 24421874Free PMC Article
New roles of SHOX as regulator of target genes.
Rappold GA, Durand C, Decker E, Marchini A, Schneider KU
Pediatr Endocrinol Rev 2012 May;9 Suppl 2:733-8. PMID: 22946287
Fibular a/hypoplasia: review and documentation of the fibular developmental field.
Lewin SO, Opitz JM
Am J Med Genet Suppl 1986;2:215-38. doi: 10.1002/ajmg.1320250626. PMID: 3146293
Mesomelic skeletal dysplasias.
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Diagnosis

Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3606-3612. Epub 2020 Nov 25 doi: 10.1002/ajmg.a.61986. PMID: 33237614
Extremity anomalies associated with Robinow syndrome.
Abu-Ghname A, Trost J, Davis MJ, Sutton VR, Zhang C, Guillen DE, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3584-3592. Epub 2020 Sep 25 doi: 10.1002/ajmg.a.61884. PMID: 32974972
Imaging of SHOX-associated anomalies.
Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R
Semin Musculoskelet Radiol 2009 Sep;13(3):236-54. Epub 2009 Sep 1 doi: 10.1055/s-0029-1237691. PMID: 19724992
Robinow syndrome.
Patton MA, Afzal AR
J Med Genet 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. PMID: 12011143Free PMC Article
Mesomelic skeletal dysplasias.
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

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
New roles of SHOX as regulator of target genes.
Rappold GA, Durand C, Decker E, Marchini A, Schneider KU
Pediatr Endocrinol Rev 2012 May;9 Suppl 2:733-8. PMID: 22946287
Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.
Iughetti L, Madeo S, Predieri B
J Endocrinol Invest 2010 Jun;33(6 Suppl):34-8. PMID: 21057184
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
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

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
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.
Sezer A, Kayhan G, Zenker M, Percin EF
Eur J Med Genet 2019 Dec;62(12):103608. Epub 2018 Dec 24 doi: 10.1016/j.ejmg.2018.12.013. PMID: 30590172
Prenatal diagnosis of Robinow syndrome: a case report.
Castro S, Peraza E, Barraza A, Zapata M
J Clin Ultrasound 2014 Jun;42(5):297-300. Epub 2013 Oct 22 doi: 10.1002/jcu.22103. PMID: 24151023
Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S
Am J Med Genet 2002 May 1;109(3):206-10. doi: 10.1002/ajmg.10283. PMID: 11977180
Mesomelic skeletal dysplasias.
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139

Clinical prediction guides

Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3606-3612. Epub 2020 Nov 25 doi: 10.1002/ajmg.a.61986. PMID: 33237614
Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan.
Whitmore KM, Buzon MR
Int J Paleopathol 2019 Sep;26:135-144. Epub 2019 Aug 1 doi: 10.1016/j.ijpp.2019.07.006. PMID: 31377579
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Danyel M, Kortüm F, Dathe K, Kutsche K, Horn D
Am J Med Genet A 2018 Apr;176(4):992-996. doi: 10.1002/ajmg.a.38635. PMID: 29575616
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
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

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