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Velopharyngeal insufficiency(VPI)

MedGen UID:
52992
Concept ID:
C0042454
Disease or Syndrome; Finding
Synonyms: Congenital velopharyngeal incompetence; Palatopharyngeal incompetence
SNOMED CT: Velopharyngeal inadequacy (229727006); Velopharyngeal incompetence (232416001); Palatopharyngeal insufficiency (232416001); VPI - Velopharyngeal incompetence (232416001); Velopharyngeal insufficiency (278714002)
Modes of inheritance:
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.
 
HPO: HP:0000220
Monarch Initiative: MONDO:0008180
OMIM®: 167500
Orphanet: ORPHA2291

Definition

Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. [from HPO]

Clinical features

From HPO
Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Finding
Velopharyngeal insufficiency
MedGen UID:
52992
Concept ID:
C0042454
Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVelopharyngeal insufficiency

Conditions with this feature

Velopharyngeal insufficiency
MedGen UID:
52992
Concept ID:
C0042454
Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Dubowitz syndrome
MedGen UID:
59797
Concept ID:
C0175691
Disease or Syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Velocardiofacial syndrome
MedGen UID:
65085
Concept ID:
C0220704
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Nager syndrome
MedGen UID:
120519
Concept ID:
C0265245
Disease or Syndrome
Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Barber-Say syndrome
MedGen UID:
230818
Concept ID:
C1319466
Disease or Syndrome
Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).
Rapp-Hodgkin ectodermal dysplasia syndrome
MedGen UID:
315656
Concept ID:
C1785148
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Chromosome 22q11.2 microduplication syndrome
MedGen UID:
436417
Concept ID:
C2675369
Disease or Syndrome
22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.\n\nThe features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
MedGen UID:
462289
Concept ID:
C3150939
Disease or Syndrome
THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and upslanted palpebral fissures, epicanthal folds, and long nose with low-hanging columella); microcephaly (typically 2-3 SD below the mean); teeth anomalies (dental caries, malocclusion, and supernumerary teeth); cardiac anomalies (most typically atrial and/or ventricular septal defects); prenatal ventriculomegaly and hydrocephalus; cryptorchidism in males; and renal malformations (most commonly unilateral renal agenesis). More rarely, affected individuals may have hypergonadotropic hypogonadism (in females), seizures, poor growth, feeding difficulties, hearing loss, refractive errors and/or other eye abnormalities, vertebral anomalies, micro/retrognathia, and imperforate / anteriorly placed anus.
Cornelia de Lange syndrome 4
MedGen UID:
766431
Concept ID:
C3553517
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Intellectual disability, X-linked 61
MedGen UID:
924419
Concept ID:
C4283894
Disease or Syndrome
Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2019). Also see Fryns syndrome (229850), an autosomal recessive disorder with overlapping features.
Adducted thumbs-arthrogryposis syndrome, Christian type
MedGen UID:
929724
Concept ID:
C4304055
Disease or Syndrome
A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
MedGen UID:
1623077
Concept ID:
C4540277
Disease or Syndrome
Sweeney-Cox syndrome
MedGen UID:
1625659
Concept ID:
C4540299
Disease or Syndrome
Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Coffin-Siris syndrome 12
MedGen UID:
1782096
Concept ID:
C5444111
Disease or Syndrome
Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Buratti-Harel syndrome
MedGen UID:
1788293
Concept ID:
C5543351
Disease or Syndrome
Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by Buratti et al., 2021).
Carey-Fineman-Ziter syndrome 2
MedGen UID:
1800921
Concept ID:
C5677012
Disease or Syndrome
Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Other features may include failure to thrive, axial hypotonia, and progressive scoliosis (Ramirez-Martinez et al., 2022). For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940).

Professional guidelines

PubMed

Lambert EM, You P, Kacmarynski DS, Rosenberg TL
Int J Pediatr Otorhinolaryngol 2021 Oct;149:110846. Epub 2021 Jul 17 doi: 10.1016/j.ijporl.2021.110846. PMID: 34329831
Glade RS, Deal R
Oral Maxillofac Surg Clin North Am 2016 May;28(2):181-8. doi: 10.1016/j.coms.2015.12.004. PMID: 27150305
de Stadler M, Hersh C
Adv Otorhinolaryngol 2015;76:7-17. Epub 2015 Feb 12 doi: 10.1159/000368004. PMID: 25733227

Recent clinical studies

Etiology

Long BD, Petersson RS
Facial Plast Surg Clin North Am 2024 Feb;32(1):55-62. Epub 2023 Aug 12 doi: 10.1016/j.fsc.2023.07.001. PMID: 37981416
Garland K, Dworschak-Stokan A, Matic D
J Plast Reconstr Aesthet Surg 2022 Oct;75(10):3813-3816. Epub 2022 Jun 24 doi: 10.1016/j.bjps.2022.06.036. PMID: 36050220
Lambert EM, You P, Kacmarynski DS, Rosenberg TL
Int J Pediatr Otorhinolaryngol 2021 Oct;149:110846. Epub 2021 Jul 17 doi: 10.1016/j.ijporl.2021.110846. PMID: 34329831
Yamaguchi K, Lonic D, Lee CH, Wang SH, Yun C, Lo LJ
Plast Reconstr Surg 2016 Aug;138(2):290e-299e. doi: 10.1097/PRS.0000000000002386. PMID: 27465191
Shprintzen RJ, Marrinan E
Curr Opin Otolaryngol Head Neck Surg 2009 Aug;17(4):302-7. doi: 10.1097/MOO.0b013e32832cbd6b. PMID: 19448542Free PMC Article

Diagnosis

Lambert EM, You P, Kacmarynski DS, Rosenberg TL
Int J Pediatr Otorhinolaryngol 2021 Oct;149:110846. Epub 2021 Jul 17 doi: 10.1016/j.ijporl.2021.110846. PMID: 34329831
Jefferson ND, Willging JP
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):283-288. doi: 10.1097/MOO.0000000000000735. PMID: 34183557
Glade RS, Deal R
Oral Maxillofac Surg Clin North Am 2016 May;28(2):181-8. doi: 10.1016/j.coms.2015.12.004. PMID: 27150305
Shen T, Sie KC
Facial Plast Surg Clin North Am 2014 Nov;22(4):593-609. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.07.010. PMID: 25444731
Cote DN, Gianoli GJ
J La State Med Soc 1993 Jan;145(1):9-11. PMID: 8423416

Therapy

Gamble C, Persson C, Willadsen E, Albery L, Soegaard Andersen H, Zattoni Antoneli M, Appelqvist M, Aukner R, Bodling P, Bowden M, Brunnegård K, Cairns G, Calladine S, Campbell L, Clayton-Smith J, Cooper R, Conroy E, El-Angbawi A, Kildegaard Emborg B, Enfält Wikman J, Fitzpatrick B, Fukushiro AP, Guedes de Azevedo Bento Gonçalves C, Havstam C, Hvistendahl AK, Jorgensen LD, Klinto K, Berntsen Kvinnsland M, Larham C, Lemvik J, Leturgie L, Liljerehn E, Lodge N, Lohmander A, McMahon S, Mehendale F, Miguel HC, Moe M, Nielsen JB, Nyberg J, Pedersen NH, Phippen G, Alvarez Piazentin-Penna SH, Patrick K, Pliskin L, Rigby L, Semb G, Southby L, Sporre M, Björkman Taleman AS, Tangstad J, Trindade IEK, Underwood I, van Eeden S, Westberg LR, Williamson PR, Paciello Yamashita R, Munro K, Walsh T, Shaw W; TOPS Study Group
N Engl J Med 2023 Aug 31;389(9):795-807. doi: 10.1056/NEJMoa2215162. PMID: 37646677Free PMC Article
Itani R, Gillett ES, Perez IA
Curr Neurol Neurosci Rep 2023 Mar;23(3):25-32. Epub 2023 Feb 15 doi: 10.1007/s11910-023-01254-6. PMID: 36790642Free PMC Article
Tang JA, Salapatas AM, Bonzelaar LB, Friedman M
Otolaryngol Head Neck Surg 2017 Apr;156(4):606-610. Epub 2017 Jan 24 doi: 10.1177/0194599816688646. PMID: 28116979
Willging JP
Curr Opin Otolaryngol Head Neck Surg 2003 Dec;11(6):452-5. doi: 10.1097/00020840-200312000-00008. PMID: 14631178
Shapiro RS
Laryngoscope 1982 Feb;92(2):135-9. doi: 10.1002/lary.1982.92.2.135. PMID: 7162308

Prognosis

Naran S, Ford M, Losee JE
Plast Reconstr Surg 2017 Jun;139(6):1343e-1355e. doi: 10.1097/PRS.0000000000003335. PMID: 28538580
Tang JA, Salapatas AM, Bonzelaar LB, Friedman M
Otolaryngol Head Neck Surg 2017 Apr;156(4):606-610. Epub 2017 Jan 24 doi: 10.1177/0194599816688646. PMID: 28116979
Yamaguchi K, Lonic D, Lee CH, Wang SH, Yun C, Lo LJ
Plast Reconstr Surg 2016 Aug;138(2):290e-299e. doi: 10.1097/PRS.0000000000002386. PMID: 27465191
Fisher DM, Sommerlad BC
Plast Reconstr Surg 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b. PMID: 21921748
Shprintzen RJ, Marrinan E
Curr Opin Otolaryngol Head Neck Surg 2009 Aug;17(4):302-7. doi: 10.1097/MOO.0b013e32832cbd6b. PMID: 19448542Free PMC Article

Clinical prediction guides

Gamble C, Persson C, Willadsen E, Albery L, Soegaard Andersen H, Zattoni Antoneli M, Appelqvist M, Aukner R, Bodling P, Bowden M, Brunnegård K, Cairns G, Calladine S, Campbell L, Clayton-Smith J, Cooper R, Conroy E, El-Angbawi A, Kildegaard Emborg B, Enfält Wikman J, Fitzpatrick B, Fukushiro AP, Guedes de Azevedo Bento Gonçalves C, Havstam C, Hvistendahl AK, Jorgensen LD, Klinto K, Berntsen Kvinnsland M, Larham C, Lemvik J, Leturgie L, Liljerehn E, Lodge N, Lohmander A, McMahon S, Mehendale F, Miguel HC, Moe M, Nielsen JB, Nyberg J, Pedersen NH, Phippen G, Alvarez Piazentin-Penna SH, Patrick K, Pliskin L, Rigby L, Semb G, Southby L, Sporre M, Björkman Taleman AS, Tangstad J, Trindade IEK, Underwood I, van Eeden S, Westberg LR, Williamson PR, Paciello Yamashita R, Munro K, Walsh T, Shaw W; TOPS Study Group
N Engl J Med 2023 Aug 31;389(9):795-807. doi: 10.1056/NEJMoa2215162. PMID: 37646677Free PMC Article
Bruce MK, Zhang C, Vodovotz L, Irgebay Z, Maliha S, Pfaff M, Ford M, Goldstein JA, Losee JE
Ann Plast Surg 2022 May 1;88(3 Suppl 3):S152-S155. doi: 10.1097/SAP.0000000000003198. PMID: 35513313
Guyton KB, Sandage MJ, Bailey D, Haak N, Molt L, Plumb A
Am J Speech Lang Pathol 2018 Nov 21;27(4):1572-1597. doi: 10.1044/2018_AJSLP-17-0222. PMID: 30208483
Yamaguchi K, Lonic D, Lee CH, Wang SH, Yun C, Lo LJ
Plast Reconstr Surg 2016 Aug;138(2):290e-299e. doi: 10.1097/PRS.0000000000002386. PMID: 27465191
de Stadler M, Hersh C
Adv Otorhinolaryngol 2015;76:7-17. Epub 2015 Feb 12 doi: 10.1159/000368004. PMID: 25733227

Recent systematic reviews

Tio PAE, Rooijers W, de Gier HHW, Poldermans HG, Koudstaal MJ, Caron CJJM
Br J Oral Maxillofac Surg 2024 Jan;62(1):30-37. Epub 2023 Nov 8 doi: 10.1016/j.bjoms.2023.09.008. PMID: 38057178
Xepoleas MD, Naidu P, Nagengast E, Collier Z, Islip D, Khatra J, Auslander A, Yao CA, Chong D, Magee WP 3rd
J Craniofac Surg 2023 Sep 1;34(6):1644-1649. Epub 2023 Aug 30 doi: 10.1097/SCS.0000000000009555. PMID: 37646567Free PMC Article
Nigh E, Rubio GA, Hillam J, Armstrong M, Debs L, Thaller SR
J Craniofac Surg 2017 Jul;28(5):1248-1254. doi: 10.1097/SCS.0000000000003702. PMID: 28582294
Tang JA, Salapatas AM, Bonzelaar LB, Friedman M
Otolaryngol Head Neck Surg 2017 Apr;156(4):606-610. Epub 2017 Jan 24 doi: 10.1177/0194599816688646. PMID: 28116979
Shriver MF, Kshettry VR, Sindwani R, Woodard T, Benzel EC, Recinos PF
Clin Neurol Neurosurg 2016 Sep;148:121-9. Epub 2016 Jul 11 doi: 10.1016/j.clineuro.2016.07.019. PMID: 27442001

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