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Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome(MEHM)

MedGen UID:
355927
Concept ID:
C1865181
Disease or Syndrome
Synonyms: MACROBLEPHARON, ECTROPION, HYPERTELORISM, AND MACROSTOMIA; Mandibulofacial dysostosis with macroblepharon and macrostomia; VERLOES-LESENFANTS SYNDROME
 
Monarch Initiative: MONDO:0011255
OMIM®: 602562
Orphanet: ORPHA357158

Definition

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma. [from ORDO]

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Treacher Collins syndrome
MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.
Large fontanelles
MedGen UID:
105329
Concept ID:
C0456132
Finding
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Keratitis
MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Inflammation of the cornea.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Oligodontia
MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure\nto develop.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome in Orphanet.

Professional guidelines

PubMed

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Trainor PA, Andrews BT
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):283-94. Epub 2013 Oct 4 doi: 10.1002/ajmg.c.31375. PMID: 24123981Free PMC Article

Recent clinical studies

Etiology

Shenoy RD, Shetty V, Dheedene A, Menten B, Pandyanda Nanjappa D, Chakraborty G, Sips P, de Paepe A, Callewaert B, Chakraborty A
Cleft Palate Craniofac J 2022 Nov;59(11):1346-1351. Epub 2021 Oct 29 doi: 10.1177/10556656211050006. PMID: 34714179
Chummun S, McLean NR, Anderson PJ, Nieuwenhoven Cv, Mathijssen I, David DJ
J Craniofac Surg 2016 Jun;27(4):932-7. doi: 10.1097/SCS.0000000000002626. PMID: 27171953
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
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
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775

Diagnosis

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Silva JB, Soares D, Leão M, Santos H
BMJ Case Rep 2019 Aug 13;12(8) doi: 10.1136/bcr-2019-229831. PMID: 31413053Free PMC Article
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA
Hum Mutat 2016 Feb;37(2):148-54. Epub 2015 Nov 19 doi: 10.1002/humu.22924. PMID: 26507355Free PMC Article
GORLIN RJ, JUE KL, JACOBSEN U, GOLDSCHMIDT E
J Pediatr 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4. PMID: 14071056

Therapy

Guo P, Pan B, Jiang H, Yang Q, He L, Lin L
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110062. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110062. PMID: 32361149
Golinko MS, LeBlanc EM, Hallett AM, Alperovich M, Flores RL
J Craniofac Surg 2016 Sep;27(6):1408-11. doi: 10.1097/SCS.0000000000002821. PMID: 27607112
Duley JA, Henman MG, Carpenter KH, Bamshad MJ, Marshall GA, Ooi CY, Wilcken B, Pinner JR
Mol Genet Metab 2016 Sep;119(1-2):83-90. Epub 2016 Jun 14 doi: 10.1016/j.ymgme.2016.06.008. PMID: 27370710
Plomp RG, Mathijssen IM, Moolenburgh SE, van Montfort KA, van der Meulen JJ, Poublon RM
J Plast Reconstr Aesthet Surg 2015 Jun;68(6):771-81. Epub 2015 Mar 14 doi: 10.1016/j.bjps.2015.02.029. PMID: 25862218
Jefferies JL, Kim JJ, Belmont JW, Friedman RA
Tex Heart Inst J 2009;36(4):349-51. PMID: 19693314Free PMC Article

Prognosis

Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Chummun S, McLean NR, Anderson PJ, Nieuwenhoven Cv, Mathijssen I, David DJ
J Craniofac Surg 2016 Jun;27(4):932-7. doi: 10.1097/SCS.0000000000002626. PMID: 27171953
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
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
Ferraro NF
Clin Plast Surg 1991 Apr;18(2):291-307. PMID: 2065490

Clinical prediction guides

Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Ryu JH, Kim HY, Ko JM, Kim MJ, Seong MW, Choi BY, Chae JH
Eur J Med Genet 2022 May;65(5):104478. Epub 2022 Apr 5 doi: 10.1016/j.ejmg.2022.104478. PMID: 35395430
Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM
Am J Hum Genet 2015 May 7;96(5):765-74. Epub 2015 Apr 23 doi: 10.1016/j.ajhg.2015.03.011. PMID: 25913037Free 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
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

Recent systematic reviews

Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Guo P, Pan B, Jiang H, Yang Q, He L, Lin L
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110062. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110062. PMID: 32361149
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

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