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Pierre Robin syndrome-faciodigital anomaly syndrome

MedGen UID:
443969
Concept ID:
C2931064
Disease or Syndrome
Synonym: Pierre robin sequence with facial and digital anomalies
SNOMED CT: Pierre Robin sequence faciodigital anomaly syndrome (723461007); Chitayat Meunier Hodgkinson syndrome (723461007); Pierre Robin sequence with facial and digital anomalies (723461007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010710
OMIM®: 311895
Orphanet: ORPHA2888

Definition

The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive. [from SNOMEDCT_US]

Clinical features

From HPO
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Easily subluxated first metacarpophalangeal joints
MedGen UID:
870689
Concept ID:
C4025143
Anatomical Abnormality
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Glossoptosis
MedGen UID:
78623
Concept ID:
C0267048
Disease or Syndrome
Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
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).
Hyperconvex nail
MedGen UID:
488894
Concept ID:
C0423807
Finding
When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPierre Robin syndrome-faciodigital anomaly syndrome
Follow this link to review classifications for Pierre Robin syndrome-faciodigital anomaly syndrome in Orphanet.

Professional guidelines

PubMed

Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM
Am J Med Genet A 2022 Jan;188(1):160-177. Epub 2021 Sep 27 doi: 10.1002/ajmg.a.62515. PMID: 34569146
Saal HM
Facial Plast Surg Clin North Am 2016 Nov;24(4):405-425. doi: 10.1016/j.fsc.2016.06.001. PMID: 27712809
Côté A, Fanous A, Almajed A, Lacroix Y
Int J Pediatr Otorhinolaryngol 2015 Apr;79(4):451-64. Epub 2015 Feb 7 doi: 10.1016/j.ijporl.2015.01.035. PMID: 25704848

Recent clinical studies

Etiology

Pardo MP, Santos GLD, Carvalho IMM, Tjioe KC
Cleft Palate Craniofac J 2021 Nov;58(11):1370-1375. Epub 2021 Jan 28 doi: 10.1177/1055665620987749. PMID: 33504197
Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D
Cleft Palate Craniofac J 2021 Jan;58(1):78-83. Epub 2020 Jul 2 doi: 10.1177/1055665620937499. PMID: 32613853
Tan HL, Kheirandish-Gozal L, Abel F, Gozal D
Sleep Med Rev 2016 Jun;27:74-88. Epub 2015 Jun 6 doi: 10.1016/j.smrv.2015.05.010. PMID: 26454241Free PMC Article
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Leung AK
Am J Dis Child 1986 Mar;140(3):249-51. doi: 10.1001/archpedi.1986.02140170075033. PMID: 3946356

Diagnosis

Schmetz A, Amiel J, Wieczorek D
Semin Fetal Neonatal Med 2021 Dec;26(6):101290. Epub 2021 Sep 17 doi: 10.1016/j.siny.2021.101290. PMID: 34561177
Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
Insalaco LF, Scott AR
Clin Perinatol 2018 Dec;45(4):717-735. Epub 2018 Aug 28 doi: 10.1016/j.clp.2018.07.009. PMID: 30396414
Toriello HV, Colley C, Bamshad M
Am J Med Genet A 2016 Oct;170(10):2551-8. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37735. PMID: 27510950
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828

Therapy

Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
Park S, Ahn J, Kim HJ, Choi EJ, Kim HY
Korean J Anesthesiol 2021 Jun;74(3):262-265. Epub 2020 Sep 15 doi: 10.4097/kja.20430. PMID: 32927938Free PMC Article
Belcher RH, Phillips JD
Int J Pediatr Otorhinolaryngol 2020 Sep;136:110182. Epub 2020 Jun 13 doi: 10.1016/j.ijporl.2020.110182. PMID: 32563840
Cleary B, Loane M, Addor MC, Barisic I, de Walle HEK, Matias Dias C, Gatt M, Klungsoyr K, McDonnell B, Neville A, Pierini A, Rissmann A, Tucker DF, Zurriaga O, Dolk H
Arch Dis Child Fetal Neonatal Ed 2020 Mar;105(2):151-157. Epub 2019 Jun 22 doi: 10.1136/archdischild-2019-316804. PMID: 31229957
de Martino M, Chiarugi A, Boner A, Montini G, De' Angelis GL
Drugs 2017 Aug;77(12):1295-1311. doi: 10.1007/s40265-017-0751-z. PMID: 28597358Free PMC Article

Prognosis

Wiechers C, Kagan KO
Semin Fetal Neonatal Med 2021 Dec;26(6):101291. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101291. PMID: 34593337
Kocaaslan FND, Sendur S, Koçak I, Çelebiler Ö
J Craniofac Surg 2020 Jan/Feb;31(1):226-229. doi: 10.1097/SCS.0000000000005961. PMID: 31725501
Insalaco LF, Scott AR
Clin Perinatol 2018 Dec;45(4):717-735. Epub 2018 Aug 28 doi: 10.1016/j.clp.2018.07.009. PMID: 30396414
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Olasoji HO, Ambe PJ, Adesina OA
Niger Postgrad Med J 2007 Jun;14(2):140-5. PMID: 17599114

Clinical prediction guides

Pardo MP, Santos GLD, Carvalho IMM, Tjioe KC
Cleft Palate Craniofac J 2021 Nov;58(11):1370-1375. Epub 2021 Jan 28 doi: 10.1177/1055665620987749. PMID: 33504197
Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D
Cleft Palate Craniofac J 2021 Jan;58(1):78-83. Epub 2020 Jul 2 doi: 10.1177/1055665620937499. PMID: 32613853
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR
Pediatr Int 2015 Apr;57(2):e69-72. Epub 2015 Mar 25 doi: 10.1111/ped.12562. PMID: 25808856
Olasoji HO, Ambe PJ, Adesina OA
Niger Postgrad Med J 2007 Jun;14(2):140-5. PMID: 17599114
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP
Am J Med Genet 1996 Mar 29;62(3):286-92. doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G. PMID: 8882789

Recent systematic reviews

Yekula A, Grant C, Gupta M, Santiago-Dieppa DR, Duddleston PJ, Gonda D, Levy M
Childs Nerv Syst 2020 Jul;36(7):1367-1377. Epub 2020 May 12 doi: 10.1007/s00381-020-04642-2. PMID: 32399800Free PMC Article
Manica D, Schweiger C, Sekine L, Fagondes SC, Kuhl G, Collares MV, Marostica PJ
J Craniomaxillofac Surg 2017 Feb;45(2):210-215. Epub 2016 Nov 22 doi: 10.1016/j.jcms.2016.11.008. PMID: 28011184
Breik O, Umapathysivam K, Tivey D, Anderson P
Int J Pediatr Otorhinolaryngol 2016 Jun;85:128-35. Epub 2016 Apr 11 doi: 10.1016/j.ijporl.2016.03.033. PMID: 27240511
Bookman LB, Melton KR, Pan BS, Bender PL, Chini BA, Greenberg JM, Saal HM, Taylor JA, Elluru RG
Otolaryngol Head Neck Surg 2012 Jan;146(1):8-18. Epub 2011 Sep 16 doi: 10.1177/0194599811421598. PMID: 21926259
Lansford M
Adv Neonatal Care 2008 Dec;8(6):308-14. doi: 10.1097/01.ANC.0000342763.64240.69. PMID: 19060576

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