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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 difficulties 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

Robin Sequence: Neonatal Management.
Van Heest T, Muhonen EG, Allen GC
Neoreviews 2024 Dec 1;25(12):e780-e792. doi: 10.1542/neo.25-12-e780. PMID: 39616138
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
Genetic evaluation and counseling for craniofacial anomalies.
Abuelo D
Med Health R I 2002 Dec;85(12):373-8. PMID: 12593356

Recent clinical studies

Etiology

European Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO).
By the Working Group on Writing a European Guideline on Robin Sequence
J Craniofac Surg 2024 Jan-Feb 01;35(1):279-361. Epub 2023 Oct 9 doi: 10.1097/SCS.0000000000009701. PMID: 37811988
Early weight gain in infants with Robin sequence after mandibular distraction.
Harris JA, Hashim E, Larson K, Caprio RM, Gordon AM, Resnick CM
Int J Oral Maxillofac Surg 2022 Oct;51(10):1305-1310. Epub 2022 Feb 15 doi: 10.1016/j.ijom.2022.01.018. PMID: 35177311
Macrodontia Associated with Mandibular Distraction Osteogenesis.
Herring ME, Lee C, Taylor J, Hajishengallis E
J Dent Child (Chic) 2020 Jan 15;87(1):48-52. PMID: 32151311
Congenital upper airway obstruction.
Dinwiddie R
Paediatr Respir Rev 2004 Mar;5(1):17-24. doi: 10.1016/j.prrv.2003.10.001. PMID: 15222950
The Robin anomalad (Pierre Robin syndrome)--a follow up study.
Williams AJ, Williams MA, Walker CA, Bush PG
Arch Dis Child 1981 Sep;56(9):663-8. doi: 10.1136/adc.56.9.663. PMID: 7294867Free PMC Article

Diagnosis

The role of upper airway endoscopy in craniofacial malformations.
Manica D, Schweiger C
Semin Fetal Neonatal Med 2021 Dec;26(6):101293. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101293. PMID: 34561176
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
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
Otolaryngologic manifestations of craniofacial syndromes.
Swibel Rosenthal LH, Caballero N, Drake AF
Otolaryngol Clin North Am 2012 Jun;45(3):557-77, vii. doi: 10.1016/j.otc.2012.03.009. PMID: 22588037
Congenital upper airway obstruction.
Dinwiddie R
Paediatr Respir Rev 2004 Mar;5(1):17-24. doi: 10.1016/j.prrv.2003.10.001. PMID: 15222950

Therapy

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
Percutaneous gastrostomy tubes in children with Pierre Robin sequence: efficacy, maintenance and complications.
Al-Attar H, Shergill AK, Brown NE, Guernsey C, Fisher D, Temple M, John P, Amaral JG, Parra D, Connolly BL
Pediatr Radiol 2012 May;42(5):566-73. Epub 2011 Dec 1 doi: 10.1007/s00247-011-2301-2. PMID: 22130827
Congenital upper airway obstruction.
Dinwiddie R
Paediatr Respir Rev 2004 Mar;5(1):17-24. doi: 10.1016/j.prrv.2003.10.001. PMID: 15222950
Syndromology's message for craniofacial biology.
Cohen MM Jr
J Maxillofac Surg 1979 May;7(2):89-109. doi: 10.1016/s0301-0503(79)80021-1. PMID: 287758
Tracheotomy in pediatrics.
Tucker JA, Silberman HD
Ann Otol Rhinol Laryngol 1972 Dec;81(6):818-24. doi: 10.1177/000348947208100611. PMID: 4636141

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 role of upper airway endoscopy in craniofacial malformations.
Manica D, Schweiger C
Semin Fetal Neonatal Med 2021 Dec;26(6):101293. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101293. PMID: 34561176
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
Camacho A, Martínez B, Alvarez S, Gil-Fournier B, Ramiro S, Hernández-Laín A, Núñez N, Simón R
J Neuromuscul Dis 2020;7(3):309-313. doi: 10.3233/JND-200477. PMID: 32333597
Congenital upper airway obstruction.
Dinwiddie R
Paediatr Respir Rev 2004 Mar;5(1):17-24. doi: 10.1016/j.prrv.2003.10.001. PMID: 15222950
The Robin anomalad (Pierre Robin syndrome)--a follow up study.
Williams AJ, Williams MA, Walker CA, Bush PG
Arch Dis Child 1981 Sep;56(9):663-8. doi: 10.1136/adc.56.9.663. PMID: 7294867Free PMC Article

Clinical prediction guides

Associated anomalies in cases with achondroplasia.
Stoll C, Alembik Y, Dott B, Roth MP
Eur J Med Genet 2022 Nov;65(11):104612. Epub 2022 Sep 20 doi: 10.1016/j.ejmg.2022.104612. PMID: 36150686
The role of upper airway endoscopy in craniofacial malformations.
Manica D, Schweiger C
Semin Fetal Neonatal Med 2021 Dec;26(6):101293. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101293. PMID: 34561176
Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings.
Miguel HC, Carneiro CG, Tabith A Jr, Zechi-Ceide RM, Genaro KF
Am J Med Genet A 2012 Aug;158A(8):1967-70. Epub 2012 Jun 18 doi: 10.1002/ajmg.a.35421. PMID: 22711187
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.
Favaro FP, Zechi-Ceide RM, Alvarez CW, Maximino LP, Antunes LF, Richieri-Costa A, Guion-Almeida ML
Am J Med Genet A 2011 Feb;155A(2):322-31. Epub 2010 Dec 22 doi: 10.1002/ajmg.a.33806. PMID: 21271648
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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