facies

Summary

Summary: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

Top Publications

  1. Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, et al. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. Am J Med Genet A. 2013;161A:850-5 pubmed publisher
    ..1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family...
  2. Basel Vanagaite L, Dallapiccola B, Ramirez Solis R, Segref A, Thiele H, Edwards A, et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012;91:998-1010 pubmed publisher
    ..Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals. ..
  3. Sepp M, Pruunsild P, Timmusk T. Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. Hum Mol Genet. 2012;21:2873-88 pubmed publisher
    ..We conclude that different PTHS-associated mutations impair the functions of TCF4 by diverse mechanisms and to a varying extent, possibly contributing to the phenotypic variability of PTHS patients...
  4. Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, et al. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. Am J Med Genet A. 2012;158A:713-9 pubmed publisher
  5. Ghosh P, Friedman N, Ghosh D. Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. J Child Neurol. 2012;27:1602-6 pubmed publisher
    ..This case demonstrates the rare co-occurrence of 2 genetic disorders in the same individual...
  6. Van Houdt J, Nowakowska B, Sousa S, van Schaik B, Seuntjens E, Avonce N, et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012;44:445-9, S1 pubmed publisher
    ..These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family...
  7. Urosevic J, Sauzeau V, Soto Montenegro M, Reig S, Desco M, Wright E, et al. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome. Proc Natl Acad Sci U S A. 2011;108:5015-20 pubmed publisher
    ..Moreover, they may serve as a tool to evaluate the potential therapeutic efficacy of B-RAF inhibitors and establish the precise window at which they could be effective against this congenital syndrome...
  8. Stavropoulos D, MacGregor D, Yoon G. Mosaic microdeletion 18q21 as a cause of mental retardation. Eur J Med Genet. 2010;53:396-9 pubmed publisher
  9. Gregor A, Albrecht B, Bader I, Bijlsma E, Ekici A, Engels H, et al. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 2011;12:106 pubmed publisher
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...

More Information

Publications62

  1. Whalen S, Heron D, Gaillon T, Moldovan O, Rossi M, Devillard F, et al. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat. 2012;33:64-72 pubmed publisher
    ..In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS...
  2. Clayton Smith J, O Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, et al. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011;89:675-81 pubmed publisher
    ..This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder...
  3. Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, et al. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet A. 2011;155A:1536-45 pubmed publisher
    ..Based on striking clinical criteria, a diagnosis of PTHS was made clinically in two patients who had normal TCF4. This report deals with the first series of PTHS patients of Italian origin...
  4. Forrest M, Chapman R, Doyle A, Tinsley C, Waite A, Blake D. Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. Hum Mutat. 2012;33:1676-86 pubmed publisher
  5. Hasi M, Soileau B, Sebold C, Hill A, Hale D, O Donnell L, et al. The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions. Hum Genet. 2011;130:777-87 pubmed publisher
  6. Brockschmidt A, Filippi A, Charbel Issa P, Nelles M, Urbach H, Eter N, et al. Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. Hum Genet. 2011;130:645-55 pubmed publisher
    ..We provide evidence for a role of TCF4/E2-2 in ocular growth control in PTHS-patients and the zebrafish model...
  7. Reinker K, Stevenson D, Tsung A. Orthopaedic conditions in Ras/MAPK related disorders. J Pediatr Orthop. 2011;31:599-605 pubmed publisher
    ..Their orthopaedic manifestations are not well defined, and their phenotypic similarity makes differentiating them difficult...
  8. Turkbeyler I, Pehlivan Y, Comez G, Pehlivan D, Sevinc A, Kalender M, et al. Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. Tokai J Exp Clin Med. 2011;36:29-30 pubmed
    ..However, Esophagus cancer has not been reported among the malignant tumors. Herein, we reported a patient with Dubowitz syndrome, IgA deficiency and Esophagus cancer...
  9. Yue J, Lu H, Lan S, Liu J, Stein M, Haffty B, et al. Identification of the DNA repair defects in a case of Dubowitz syndrome. PLoS ONE. 2013;8:e54389 pubmed publisher
    ..These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations...
  10. Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011;89:289-94 pubmed publisher
    ..Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function...
  11. Tatton Brown K, Hanks S, Ruark E, Zachariou A, Duarte S, Ramsay E, et al. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget. 2011;2:1127-33 pubmed
    ..Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. ..
  12. Steinbusch C, van Roozendaal K, Tserpelis D, Smeets E, Kranenburg de Koning T, de Waal K, et al. Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clin Genet. 2013;83:73-7 pubmed publisher
    ..We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for TCF4 mutations...
  13. Marangi G, Ricciardi S, Orteschi D, Tenconi R, Monica M, Scarano G, et al. Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. Am J Med Genet A. 2012;158A:1604-11 pubmed publisher
    ..This scoring system is also proposed for a clinically based diagnosis of PTHS in absence of a proven TCF4 mutation...
  14. Thierry G, Beneteau C, Pichon O, Flori E, Isidor B, Popelard F, et al. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A. 2012;158A:1633-40 pubmed publisher
    ..These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures...
  15. van Balkom I, Vuijk P, Franssens M, Hoek H, Hennekam R. Development, cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol. 2012;54:925-31 pubmed publisher
    ..The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD)...
  16. Allanson J, Anneren G, Aoki Y, Armour C, Bondeson M, Cave H, et al. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?. Am J Med Genet C Semin Med Genet. 2011;157C:129-35 pubmed publisher
    ..Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation...
  17. Chodkiewicz H, Cohen P. Systemic mastocytosis-associated leonine facies and eyebrow loss. South Med J. 2011;104:236-8 pubmed publisher
    Leonine facies or loss of eyebrows, or both, occurring concurrently or in succession, can be associated with numerous etiologies...
  18. Lehalle D, Williams C, Siu V, Clayton Smith J. Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. Am J Med Genet A. 2011;155A:1685-9 pubmed publisher
  19. Koivisto P, Koivisto H, Haapala K, Simola K. A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect. Clin Dysmorphol. 1999;8:139-41 pubmed
    ..2q21.2) by high resolution banding. Consequently, prometaphase analysis is warranted in some cases when conventional karyotype analysis appears normal...
  20. Bayoumi R, Saar K, Lee Y, Nurnberg G, Reis A, Nur E Kamal M, et al. Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. J Med Genet. 2001;38:369-73 pubmed
    ..described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family...
  21. Kamath B, Loomes K, Oakey R, Emerick K, Conversano T, Spinner N, et al. Facial features in Alagille syndrome: specific or cholestasis facies?. Am J Med Genet. 2002;112:163-70 pubmed
    ..both within and between families, the possibility has been raised that cholestasis is the causative factor for the facies. In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking ..
  22. Akcakus M, Ozkul Y, Gunes T, Kurtoglu S, Cetin N, Kisaarslan A, et al. Associated anomalies in asymmetric crying facies and 22q11 deletion. Genet Couns. 2003;14:325-30 pubmed
    Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies...
  23. McConnell V, Derham R, McManus D, Morrison P. Mosaic monosomy 14: clinical features and recognizable facies. Clin Dysmorphol. 2004;13:155-60 pubmed
    ..A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation...
  24. Tatton Brown K, Douglas J, Coleman K, Baujat G, Cole T, Das S, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005;77:193-204 pubmed
    ..005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness...
  25. Cuneo B. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr. 2001;13:465-72 pubmed
    ..Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T-cell mediated immune deficiency, and palate ..
  26. Kendrick C, Brown R, Reina R, Ford B, Reed R, Nesbitt L. Cutaneous sarcoidosis presenting as leonine facies. Cutis. 2004;73:57-62 pubmed
    ..A thorough systemic workup was void of other comorbidities. The reports of tumoral sarcoidosis or sarcoidosis presenting with leonine facies are rare, and those cases that have been reported have been linked to other systemic findings.
  27. Akcakus M, Gunes T, Kurtoglu S, Cetin N, Ozkul Y, Narin N, et al. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. Turk J Pediatr. 2004;46:191-3 pubmed
    Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle...
  28. Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y. Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. Am J Med Genet A. 2005;138A:282-7 pubmed
    ..girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described...
  29. Gripp K, Lin A, Nicholson L, Allen W, Cramer A, Jones K, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A. 2007;143A:1472-80 pubmed
    ..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations...
  30. Schulz A, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen Kaesbach G, et al. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet. 2008;73:62-70 pubmed
  31. Antoniades K, Hatzistilianou M, Pitsavas G, Agouridaki C, Athanassiadou F. Co-existence of Dubowitz and hyper-IgE syndromes: a case report. Eur J Pediatr. 1996;155:390-2 pubmed
    ..The co-existence of these two syndromes is rare and we suggest that this is the first such case in the literature...
  32. Caksen H, Odabas D, Tuncer O, Kirimi E, Tombul T, Ikbal M, et al. A review of 35 cases of asymmetric crying facies. Genet Couns. 2004;15:159-65 pubmed
    A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth...
  33. Roberts A, Allanson J, Jadico S, Kavamura M, Noonan J, Opitz J, et al. The cardiofaciocutaneous syndrome. J Med Genet. 2006;43:833-42 pubmed
    ..The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness...
  34. Lo Castro A, Brancati F, Digilio M, Garaci F, Bollero P, Alfieri P, et al. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:17-23 pubmed publisher
    ..Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations...
  35. Weng Q, Chen Y, Wang H, Xu X, Yang B, He Q, et al. Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system. Neuron. 2012;73:713-28 pubmed publisher
    ..Thus, our findings reveal that Sip1-mediated antagonism of inhibitory signaling is critical for promoting CNS myelination and point to new mediators for myelin repair...
  36. Sumathipala D, Gamage T, Wijesiriwardena B, Jayasekara R, Dissanayake V. An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. J Clin Res Pediatr Endocrinol. 2012;4:223-5 pubmed publisher
    ..The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis...
  37. Huang X, Li X, Tan C, Xiao L, Jiang H, Zhang S, et al. Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum. Tohoku J Exp Med. 2010;222:311-8 pubmed
  38. Dentici M, Mingarelli R, Dallapiccola B. The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. Am J Med Genet A. 2011;155A:459-65 pubmed publisher
    ..We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young-Simpson syndrome subtype...
  39. McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng W, et al. Clinical features and respiratory complications in Myhre syndrome. Eur J Med Genet. 2011;54:e553-9 pubmed publisher
  40. Anderson S, Kamath A, Pilz D, Morgan S. A rare example of germ-line chromothripsis resulting in large genomic imbalance. Clin Dysmorphol. 2016;25:58-62 pubmed publisher
  41. Ariss M, Natan K, Friedman N, Traboulsi E. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. Ophthalmic Genet. 2012;33:159-60 pubmed publisher
    ..We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia...
  42. Piccione M, Vecchio D, Cavani S, Malacarne M, Pierluigi M, Corsello G. The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication. Am J Med Genet A. 2011;155A:3054-9 pubmed publisher
    ..2 microduplications should be considered...
  43. Davidson T, Sanchez Lara P, Randolph L, Krieger M, Wu S, Panigrahy A, et al. Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. BMC Med Genet. 2012;13:19 pubmed publisher
    ..2. NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts. To date, NF2 and PRS have not been described together in the same patient...
  44. Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, et al. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013;110:352-61 pubmed publisher
    ..Structural analyses predicted interference with PYCR1 multimerization for a subset of missense mutations. These findings have implications for the clinics as well as the pathomechanism of PYCR1-related ARCL. ..
  45. Cabrera S, Morel C, Tartaglia M. Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome. Am J Med Genet A. 2016;170A:1251-6 pubmed publisher
    ..In this report, we present the cognitive, neuropsychiatric, and imaging findings of a patient diagnosed with CFCS who after having remained stable developed progressive cognitive/behavioral and motor decline...
  46. Nimmakayalu M, Noble N, Horton V, Willing M, Copeland S, Sheffield V, et al. 2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster. Am J Med Genet A. 2012;158A:2767-74 pubmed publisher
    ..Our and published data indicate that 2q24 deletions not involving the SCN cluster are associated with fewer neurobehavioral problems, but may predispose to congenital malformations...
  47. Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. The behavioral phenotype of Mowat-Wilson syndrome. Am J Med Genet A. 2012;158A:358-66 pubmed publisher
    ..Furthermore, they are a foundation for informing interventions and management options to enhance the independence and quality of life for persons with MWS...
  48. Allanson J, Hennekam R, Moog U, Smeets E. Rett syndrome: a study of the face. Am J Med Genet A. 2011;155A:1563-7 pubmed publisher
    ..Thus, while Rett and Angelman syndromes have similar clinical, neurological, and behavioral phenotypes, they do not appear to share similar facial features...
  49. Tug E, Cavdarli B, Karaoguz M, Percin F. A patient with 9q subtelomeric deletion syndrome with additional findings. Genet Couns. 2012;23:465-71 pubmed
  50. Serdar Z, Altunay I, Yasar S, Erfan G, Gunes P. Generalized papular and sclerodermoid eruption: scleromyxedema. Indian J Dermatol Venereol Leprol. 2010;76:592 pubmed publisher
    ..Generalized form is quite difficult to treat and may even be fatal. Herein, we present a male patient with typical features of generalized papular and sclerodermoid LM variety and with benign outcome by isotretinoin...
  51. Tukel T, Sosic D, Al Gazali L, Erazo M, Casasnovas J, Franco H, et al. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet. 2010;87:289-96 pubmed publisher
  52. Gunn D, de Craen A, Dick J, Tomlin C, van Heemst D, Catt S, et al. Facial appearance reflects human familial longevity and cardiovascular disease risk in healthy individuals. J Gerontol A Biol Sci Med Sci. 2013;68:145-52 pubmed publisher
    ..It is unknown, however, whether appearance reflects disease risk or lifespan independently of factors already known to associate with both health and appearance...
  53. Skraban C, Wells C, Markose P, Cho M, Nesbitt A, Au P, et al. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017;101:139-148 pubmed publisher