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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.
See: This record
X-linked recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
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
Frontal bossing
MedGen UID:
67453
•Concept ID:
C0221354
•
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
See: Feature record | Search on this feature
Easily subluxated first metacarpophalangeal joints
MedGen UID:
870689
•Concept ID:
C4025143
•
Anatomical Abnormality
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
High forehead
MedGen UID:
65991
•Concept ID:
C0239676
•
Finding
An abnormally increased height of the forehead.
See: Feature record | Search on this feature
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.
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
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.
See: Feature record | Search on this feature
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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

Genetic Evaluation for Craniofacial Conditions.
Saal HM
Facial Plast Surg Clin North Am 2016 Nov;24(4):405-425. doi: 10.1016/j.fsc.2016.06.001. PMID: 27712809
Pierre Robin sequence: review of diagnostic and treatment challenges.
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
Controversies in the diagnosis and management of the Robin sequence.
Mackay DR
J Craniofac Surg 2011 Mar;22(2):415-20. doi: 10.1097/SCS.0b013e3182074799. PMID: 21403570

Recent clinical studies

Etiology

Craniofacial Features in Richieri-Costa-Pereira Syndrome.
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
Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
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
The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate.
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
Methadone, Pierre Robin sequence and other congenital anomalies: case-control study.
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
Craniofacial syndromes and sleep-related breathing disorders.
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

Diagnosis

Genetics of craniofacial malformations.
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
Robin Sequence: Neonatal Mandibular Distraction.
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
Update on the Toriello-Carey syndrome.
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
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828
Controversies in the diagnosis and management of the Robin sequence.
Mackay DR
J Craniofac Surg 2011 Mar;22(2):415-20. doi: 10.1097/SCS.0b013e3182074799. PMID: 21403570

Therapy

Survival, hospitalisation and surgery in children born with Pierre Robin sequence: a European population-based cohort study.
Santoro M, Garne E, Coi A, Tan J, Loane M, Ballardini E, Cavero-Carbonell C, de Walle HE, Gatt M, Gissler M, Jordan S, Klungsøyr K, Lelong N, Urhoj SK, Wellesley DG, Morris JK
Arch Dis Child 2023 Jul;108(7):550-555. Epub 2023 May 9 doi: 10.1136/archdischild-2022-324716. PMID: 37160334Free PMC Article
Robin Sequence: Neonatal Mandibular Distraction.
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
Total facial nerve injury during mandibular distraction osteogenesis.
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
Methadone, Pierre Robin sequence and other congenital anomalies: case-control study.
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
Working Towards an Appropriate Use of Ibuprofen in Children: An Evidence-Based Appraisal.
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

Fetal markers for the detection of infants with craniofacial malformation.
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
The Comparison of Pierre Robin Sequence and Non-Syndromic Cleft Palate.
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
Peripartum Management of Neonatal Pierre Robin Sequence.
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
Nager syndrome and Pierre Robin sequence.
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
Pierre Robin syndrome: an update.
Olasoji HO, Ambe PJ, Adesina OA
Niger Postgrad Med J 2007 Jun;14(2):140-5. PMID: 17599114

Clinical prediction guides

Craniofacial Features in Richieri-Costa-Pereira Syndrome.
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
Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
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
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM
Genet Med 2020 Aug;22(8):1338-1347. Epub 2020 May 19 doi: 10.1038/s41436-020-0811-8. PMID: 32424177Free PMC Article
Pierre Robin syndrome: an update.
Olasoji HO, Ambe PJ, Adesina OA
Niger Postgrad Med J 2007 Jun;14(2):140-5. PMID: 17599114
Cerebro-costo-mandibular syndrome.
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

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.
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
The role of flexible fiberoptic laryngoscopy in Robin Sequence: A systematic review.
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
Feeding and reflux in children after mandibular distraction osteogenesis for micrognathia: A systematic review.
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
Neonates with tongue-based airway obstruction: a systematic review.
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
Focus on the physical assessment of the infant with Stickler syndrome.
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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