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Epicanthus inversus

MedGen UID:
224913
Concept ID:
C1303003
Finding
SNOMED CT: Epicanthus inversus (400956000)
 
HPO: HP:0000537

Definition

A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Epicanthus inversus

Conditions with this feature

Blepharophimosis, ptosis, and epicanthus inversus syndrome
MedGen UID:
66312
Concept ID:
C0220663
Disease or Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears.
3MC syndrome 3
MedGen UID:
208657
Concept ID:
C0796032
Disease or Syndrome
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).
3MC syndrome 1
MedGen UID:
167100
Concept ID:
C0796059
Disease or Syndrome
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC Syndrome Also see 3MC syndrome-2 (3MC2; 265050), caused by mutation in the COLEC11 gene (612502), and 3MC syndrome-3 (3MC3; 248340), caused by mutation in the COLEC1 gene (607620).
3MC syndrome 2
MedGen UID:
167115
Concept ID:
C0796279
Disease or Syndrome
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).
Blepharophimosis - intellectual disability syndrome, SBBYS type
MedGen UID:
350209
Concept ID:
C1863557
Disease or Syndrome
KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.
Intellectual disability, X-linked syndromic, Turner type
MedGen UID:
394425
Concept ID:
C2678046
Disease or Syndrome
Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018).
Chromosome 16p13.3 duplication syndrome
MedGen UID:
462058
Concept ID:
C3150708
Disease or Syndrome
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
Peroxisome biogenesis disorder 4A (Zellweger)
MedGen UID:
766850
Concept ID:
C3553936
Disease or Syndrome
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see 214100.
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.
Chromosome 22q13 duplication syndrome
MedGen UID:
816174
Concept ID:
C3809844
Disease or Syndrome
Hypotonia, ataxia, and delayed development syndrome
MedGen UID:
934585
Concept ID:
C4310618
Disease or Syndrome
EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.
Okur-Chung neurodevelopmental syndrome
MedGen UID:
934706
Concept ID:
C4310739
Disease or Syndrome
Individuals with Okur-Chung neurodevelopmental syndrome (OCNDS) frequently have nonspecific clinical features, delayed language development, motor delay, intellectual disability (typically in the mild-to-moderate range), generalized hypotonia starting in infancy, difficulty feeding, and nonspecific dysmorphic facial features. Developmental delay affects all areas of development, but language is more impaired than gross motor skills in most individuals. Intellectual disability has been reported in about three quarters of individuals. Less common findings may include kyphoscoliosis, postnatal short stature, disrupted circadian rhythm leading to sleep disturbance, seizures, and poor coordination.
Genitourinary and/or brain malformation syndrome
MedGen UID:
1720440
Concept ID:
C5394158
Disease or Syndrome
Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, commonly including brain and/or urogenital malformations. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye abnormalities and skeletal issues (kyphoscoliosis, joint contractures) can also be present in individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a disorder of sex development (DSD) with gonadal abnormalities (dysgenetic gonads or streak gonads). Individuals with a 46,XX chromosome complement may have varying degrees of virilization (clitoral hypertrophy, posterior labial fusion, urogenital sinus).
White-Kernohan syndrome
MedGen UID:
1785087
Concept ID:
C5543635
Disease or Syndrome
White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021).
Chilton-Okur-Chung neurodevelopmental syndrome
MedGen UID:
1803276
Concept ID:
C5677022
Disease or Syndrome
Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).

Professional guidelines

PubMed

Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D
Reprod Biomed Online 2023 Jul;47(1):102-109. Epub 2023 Mar 12 doi: 10.1016/j.rbmo.2023.03.004. PMID: 37120360
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L
Hum Mol Genet 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. PMID: 11468277

Recent clinical studies

Etiology

Wang Y, Wu Q, Cao W, Huang L, Liu W, Li C, Li N
Mol Vis 2022;28:352-358. Epub 2022 Oct 6 PMID: 36338666Free PMC Article
Amer AA, Abdellah MM, Hassan NHF, Mounir A
BMC Ophthalmol 2022 May 19;22(1):226. doi: 10.1186/s12886-022-02455-2. PMID: 35590300Free PMC Article
Meng T, Zhang W, Zhang R, Li J, Gao Y, Qin Y, Jiao X
Front Endocrinol (Lausanne) 2022;13:829153. Epub 2022 Apr 28 doi: 10.3389/fendo.2022.829153. PMID: 35574016Free PMC Article
Duarte AF, Akaishi PM, de Molfetta GA, Chodraui-Filho S, Cintra M, Toscano A, Silva WA Jr, Cruz AA
Ophthalmology 2017 Mar;124(3):399-406. Epub 2016 Nov 30 doi: 10.1016/j.ophtha.2016.10.028. PMID: 27914838
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947

Diagnosis

Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, Zhang F, Guo T, Qin Y
J Ovarian Res 2023 Feb 15;16(1):39. doi: 10.1186/s13048-023-01104-6. PMID: 36793102Free PMC Article
Meng T, Zhang W, Zhang R, Li J, Gao Y, Qin Y, Jiao X
Front Endocrinol (Lausanne) 2022;13:829153. Epub 2022 Apr 28 doi: 10.3389/fendo.2022.829153. PMID: 35574016Free PMC Article
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
Bedran EG, Pereira MV, Bernardes TF
Semin Ophthalmol 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570. PMID: 20590414
Strømme P, Sandboe F
Acta Ophthalmol Scand 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x. PMID: 8689480

Therapy

Jinxiu L, Shuimei L, Ming X, Jonathan LC, Xiangju L, Wenyuan D
Medicine (Baltimore) 2020 Apr;99(16):e19813. doi: 10.1097/MD.0000000000019813. PMID: 32311999Free PMC Article
Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920
Roth LW, Alvero R
J Reprod Med 2014 Jan-Feb;59(1-2):87-9. PMID: 24597293
González-Niño C, Yeste D, Carrascosa A
J Pediatr Endocrinol Metab 2007 Mar;20(3):445-8. doi: 10.1515/jpem.2007.20.3.445. PMID: 17451085
Gersak K, Harris SE, Smale WJ, Shelling AN
Hum Reprod 2004 Dec;19(12):2767-70. Epub 2004 Sep 30 doi: 10.1093/humrep/deh496. PMID: 15459170

Prognosis

Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D
Reprod Biomed Online 2023 Jul;47(1):102-109. Epub 2023 Mar 12 doi: 10.1016/j.rbmo.2023.03.004. PMID: 37120360
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
De Baere E, Fellous M, Veitia RA
Folia Histochem Cytobiol 2009;47(5):S43-9. doi: 10.2478/v10042-009-0062-7. PMID: 20067892

Clinical prediction guides

Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D
Reprod Biomed Online 2023 Jul;47(1):102-109. Epub 2023 Mar 12 doi: 10.1016/j.rbmo.2023.03.004. PMID: 37120360
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Duarte AF, Akaishi PM, de Molfetta GA, Chodraui-Filho S, Cintra M, Toscano A, Silva WA Jr, Cruz AA
Ophthalmology 2017 Mar;124(3):399-406. Epub 2016 Nov 30 doi: 10.1016/j.ophtha.2016.10.028. PMID: 27914838
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
De Baere E, Fellous M, Veitia RA
Folia Histochem Cytobiol 2009;47(5):S43-9. doi: 10.2478/v10042-009-0062-7. PMID: 20067892

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