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Binder syndrome

MedGen UID:: 66318
•Concept ID:: C0220692
•: Disease or Syndrome

Synonym:	Maxillonasal dysplasia, Binder type
SNOMED CT:	Maxillonasal dysplasia syndrome (715985008); Binder syndrome (715985008); Maxillonasal dysostosis (715985008); Maxillonasal dysplasia (715985008)
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 dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Non-Mendelian inheritance MedGen UID: 109109 •Concept ID: C0600599 • Genetic Function Source: Orphanet A mode of inheritance that depends on genetic determinants in more than one gene. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet) Non-Mendelian inheritance (Orphanet)

Monarch Initiative:	MONDO:0007953
OMIM®:	155050
Orphanet:	ORPHA1248

Definition

A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a ''reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. [from SNOMEDCT_US]

Clinical features

From HPO

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.

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Large earlobe

MedGen UID:: 334979
•Concept ID:: C1844573
•: Finding

Increased volume of the earlobe, that is, abnormally prominent ear lobules.

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Vertebral clefting

MedGen UID:: 344586
•Concept ID:: C1855828
•: Finding

Schisis (cleft or cleavage) of vertebral bodies.

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Patchy distortion of vertebrae

MedGen UID:: 870845
•Concept ID:: C4025305
•: Finding

See: Feature record | Search on this feature

Dental malocclusion

MedGen UID:: 9869
•Concept ID:: C0024636
•: Anatomical Abnormality

Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.

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Depressed nasal bridge

MedGen UID:: 373112
•Concept ID:: C1836542
•: Finding

Posterior positioning of the nasal root in relation to the overall facial profile for age.

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Short nose

MedGen UID:: 343052
•Concept ID:: C1854114
•: Finding

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

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Short columella

MedGen UID:: 341783
•Concept ID:: C1857479
•: Finding

Reduced distance from the anterior border of the naris to the subnasale.

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Abnormality of head or neck
Abnormality of limbs
- Short distal phalanx of finger
Abnormality of the musculoskeletal system
- Patchy distortion of vertebrae
- Vertebral clefting
Ear malformation
- Large earlobe

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBinder syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Binder syndrome

Follow this link to review classifications for Binder syndrome in Orphanet.

Recent clinical studies

Etiology

Secondary Rhinoplasty in Binder Syndrome: Considerations and Management of Complex Problem With Heterologous Bone Graft.

Barbera G, Raponi I, Nocini R, Della Monaca M, Priore P, Valentini V
J Craniofac Surg 2021 Jan-Feb 01;32(1):e5-e8. doi: 10.1097/SCS.0000000000006789. PMID: 32694479

Comparison of Two Different Grafts in Nasal Framework Reconstruction of Binder Syndrome: Cartilage and Silicone.

Tian L, You J, Wang H, Zhang B, Xu Y, Lu X, Fan F
J Craniofac Surg 2017 Sep;28(6):1413-1417. doi: 10.1097/SCS.0000000000003660. PMID: 28796097

Binder syndrome: Clinical findings and surgical treatment of 18 patients at the Department of Plastic Surgery in Polanica Zdrój.

Drozdowski PH, Łątkowski I, Zachara MG, Wójcicki P
Adv Clin Exp Med 2017 May-Jun;26(3):427-437. doi: 10.17219/acem/62123. PMID: 28791817

Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K.

Howe AM, Lipson AH, Sheffield LJ, Haan EA, Halliday JL, Jenson F, David DJ, Webster WS
Am J Med Genet 1995 Sep 11;58(3):238-44. doi: 10.1002/ajmg.1320580309. PMID: 8533825

Craniofacial anomalies in twins.

Keusch CF, Mulliken JB, Kaplan LC
Plast Reconstr Surg 1991 Jan;87(1):16-23. doi: 10.1097/00006534-199101000-00004. PMID: 1984262

See all (15)

Diagnosis

Binder's syndrome: A narrative review.

Siddiqui HP, Sennimalai K, Samrit VD, Bhatt K, Duggal R
Spec Care Dentist 2023 Jan;43(1):73-82. Epub 2022 Jun 2 doi: 10.1111/scd.12731. PMID: 35654104

Surgical Treatment for Patients With Binder Syndrome, Clinical Features and Associated Symptoms: A Systematic Review.

Kerbrat A, Ferri J
J Craniofac Surg 2022 Mar-Apr 01;33(2):530-533. doi: 10.1097/SCS.0000000000008325. PMID: 34711759

CT and MRI of congenital nasal lesions in syndromic conditions.

Ginat DT, Robson CD
Pediatr Radiol 2015 Jul;45(7):1056-65. Epub 2015 Jan 9 doi: 10.1007/s00247-014-3239-y. PMID: 25573243

Binder syndrome.

Chummun S, McLean NR, Nugent M, Anderson PJ, David DJ
J Craniofac Surg 2012 Jul;23(4):986-90. doi: 10.1097/SCS.0b013e31824e2683. PMID: 22777437

Binder's syndrome.

Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013 Free PMC Article

See all (23)

Therapy

A long-term evaluation of 150 costochondral nasal grafts.

Chummun S, McLean NR, Anderson PJ, David DJ
J Plast Reconstr Aesthet Surg 2013 Nov;66(11):1477-81. Epub 2013 Jul 30 doi: 10.1016/j.bjps.2013.07.004. PMID: 23910911

Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure.

Howe AM, Lipson AH, de Silva M, Ouvrier R, Webster WS
Am J Med Genet 1997 Sep 5;71(4):391-6. doi: 10.1002/(sici)1096-8628(19970905)71:4<391::aid-ajmg4>3.0.co;2-x. PMID: 9286443

Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K.

Howe AM, Lipson AH, Sheffield LJ, Haan EA, Halliday JL, Jenson F, David DJ, Webster WS
Am J Med Genet 1995 Sep 11;58(3):238-44. doi: 10.1002/ajmg.1320580309. PMID: 8533825

See all (3)

Prognosis

Stepwise surgical management of binder syndrome with skeletal class III malocclusion in adults.

Hao J, Al-Watary MQ, He Y, Wei Y, Zhao Q, Li J
J Craniomaxillofac Surg 2024 Nov;52(11):1211-1218. Epub 2024 Aug 17 doi: 10.1016/j.jcms.2024.03.029. PMID: 39181744

Prenatal diagnosis of Binder's syndrome: report of two cases.

Cantarell SM, Azuara LS, Pérez SP, Juanos JL, Navarro FM, Martínez MC
Clin Exp Obstet Gynecol 2016;43(2):279-83. PMID: 27132430

Anteriorly Based Galeo-Pericranial Frontalis Flap: A Novel Application in Secondary Rhinoplasty With Atrophic Skin.

Morovic CG, Soto CA, Vidal C
J Craniofac Surg 2016 Mar;27(2):484-8. doi: 10.1097/SCS.0000000000002474. PMID: 26890462

Nasal reconstruction for maxillonasal dysplasia.

Holmes AD, Lee SJ, Greensmith A, Heggie A, Meara JG
J Craniofac Surg 2010 Mar;21(2):543-51. doi: 10.1097/SCS.0b013e3181d024b0. PMID: 20216441

Craniofacial anomalies in twins.

Keusch CF, Mulliken JB, Kaplan LC
Plast Reconstr Surg 1991 Jan;87(1):16-23. doi: 10.1097/00006534-199101000-00004. PMID: 1984262

See all (6)

Clinical prediction guides

Stepwise surgical management of binder syndrome with skeletal class III malocclusion in adults.

Hao J, Al-Watary MQ, He Y, Wei Y, Zhao Q, Li J
J Craniomaxillofac Surg 2024 Nov;52(11):1211-1218. Epub 2024 Aug 17 doi: 10.1016/j.jcms.2024.03.029. PMID: 39181744

Maxillonasal osteochondral complex repair in maxillonasal dysplasia.

Guereschi P, Boudana D, Wolber A, Pellerin P
J Craniofac Surg 2011 Nov;22(6):2375-81. doi: 10.1097/SCS.0b013e318231e526. PMID: 22134285

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Jaillet J, Robert-Gnansia E, Till M, Vinciguerra C, Edery P
Birth Defects Res A Clin Mol Teratol 2005 Mar;73(3):188-93. doi: 10.1002/bdra.20123. PMID: 15751048

Binder syndrome in a mother and her son.

Roy-Doray B, Geraudel A, Alembik Y, Stoll C
Genet Couns 1997;8(3):227-33. PMID: 9327267

Clinical and radiologic aspects of maxillonasal dysostosis (Binder syndrome).

Delaire J, Tessier P, Tulasne JF, Resche F
Head Neck Surg 1980 Nov-Dec;3(2):105-22. doi: 10.1002/hed.2890030205. PMID: 7440178

See all (8)