Facial Dysostosis: Causes & Reasons

Possible Causes for Facial Dysostosis

Note the facial dysostosis and severe maxilla-nasal hypoplasia. Photograph (c) and radiograph (d) of the left hand. [iofbonehealth.org]

Acrodysostosis (MIM 101800) is a dominantly inherited condition associating (1) skeletal features (short stature, facial dysostosis, and brachydactyly with cone-shaped epiphyses [ncbi.nlm.nih.gov]

This disease is characterized by brachydactyly, facial dysostosis, spinal stenosis, short stature, often intellectual disability and in some rare cases hormone resistance. [iofbonehealth.org]

Treacher-Collins Syndrome

THE PRESENT conception of mandibulo-facial dysostosis (Treacher-Collins syndrome) has been formulated primarily by Franceschetti,1,2 Zwahlen,1 and Klein.2 There has been considerable [jamanetwork.com]

An incomplete form of mandibulo-facial dysostosis; Franceschetti's syndrome. Br J Ophthalmol. 1949 Nov;33(11):709–illust. [ncbi.nlm.nih.gov]

@article{Patterson1964CRANIOFACIALDA, title={CRANIO-FACIAL DYSOSTOSIS AND MALFORMATIONS OF FEET.}, author={Thomas Joseph Patterson and Alan Carruth Stevenson}, journal={Journal [semanticscholar.org]

Gorlin-Psaume Syndrome

Papillon-Leage-Psaume Syndrome (Oro-Digital-Facial Syndrome; Linguofacial Dysplasia of Grob; Gorlin Syndrome; Dysplasia Linguofacialis; OFD Syndrome; Oro-Digital-Facial Dysostosis [esanatos.com]

Saunders Company, Philadelphia, London 1982 p 190 Gorlin RJ, Psaume J: Orodigito facial dysostosis-a new syndrome.J Pediatr 61: 520, 1962 Article PubMed CAS Google Scholar [link.springer.com]

X-Linked Mandibulofacial Dysostosis

[…] with cerebriform calva]. 57 FRANCESCHETTI A 13082990 1953 47 Hereditary craniofacial dysplasia. 57 PINKERTON OD...PINKERTON FJ 14914838 1952 48 Cranio-facial dysostosis of [malacards.org]

dysostosis: new hereditary syndrome, 1949, Acta Ophtalmol, 27, p. 143-224 ^ The Treacher Collins Syndrome Collaborative Group, Positional cloning of a gene involved in the [ja.wikipedia.org]

Opitz Reynolds Fitzgerald syndrome 0 *Facial Asymmetry *Mandibulofacial Dysostosis. [reference.md]

Fucosidosis

dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. [ncbi.nlm.nih.gov]

Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. [uniprot.org]

Individuals usually have mild coarsening of facial features, dysostosis multiplex, mental retardation enlarged liver, spleen and/or heart involvement. [web.archive.org]

Genee-Wiedemann Syndrome

All of the six cases have occurred sporadically. ...read moreread less TL;DR: Recent advances in the understanding of the development of facial dysostosis are described with [typeset.io]

"Une forme de dysostose mandibulo-faciale" [A form of mandibulo-facial dysostosis]. J. De Génét. Humaine (in French). 17: 45–52. ^ Wiedemann HR (1973). [en.wikipedia.org]

J Pediatr 98 1:87–88 Google Scholar Franceschetti A, Klein D (1949) The mandibulo-facial dysostosis, a new hereditary syndrome. [link.springer.com]

Mucolipidosis Type 1

These individuals have mental retardation, coarse facial features, dysostosis multiplex, and cherry red spots. Hepatosplenomegaly may be present. [ismrd.org]

Type II has an earlier onset with coarse facial features, dysostosis multiplex, short stature, developmental delay, mental retardation and hepatosplenomegaly. [genedx.com]

Facial features are coarse and dysostosis multiplex is present. The infantile form of type II Sialidosis has an onset within the first year of life. [ismrd.org]

Autosomal-Recessive Robinow Syndrome

The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and [dbpedia.org]

Brunoni B, Guidugli-Neto J, Chedick ES, Borovic CD (1987): Acro- facial dysostosis: A new type? Rev Bras Genet 10:353-360. [documentslide.com]

It is often referred to by some alternative names, including: Picture 1 – Robinow Syndrome Robinow Dwarfism Fetal Face Syndrome Acral Dysostosis with Facial and Genital Abnormalities [hxbenefit.com]

Russell-Silver Syndrome

Russell: A syndrome of "intra-uterine" dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms and other anomalies (5 examples). [whonamedit.com]

Russell A syndrome of intra uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionnated short arms and other anomalies Proc Roy Soc Mec, 47 (1954 [analesdepediatria.org]

A syndrome of intra uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionnated short arms and other anomalies. [analesdepediatria.org]

Nager Syndrome

KEYWORDS: Nager syndrome; SF3B4; acro-facial dysostosis; spliceosome [ncbi.nlm.nih.gov]

Franceschetti, D Klein: The mandibulo-facial dysostosis: A new hereditary syndrome. Acta ophthalmologica, Copenhagen, 1949, 27: 143-224 D. [whonamedit.com]

dysostosis: new hereditary syndrome, 1949, Acta Ophtalmol, 27, p. 143-224 ^ The Treacher Collins Syndrome Collaborative Group, Positional cloning of a gene involved in the [ja.wikipedia.org]

Hypomandibular Faciocranial Dysostosis

SNOMEDCT-BE (disorder) / 721845005 SNOMEDCT-BE (disorder) / 721845005 dysostose crânienne avec dépression mentonnière cranio-mandibulo-facial dysostosis IATE - Health IATE [wordscope.com]

and digital malformations ( dysostosis, camptodactyly ). [wellnessadvocate.com]

[…] following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1790Disease definitionHypomandibular faciocranial dysostosis [malacards.org]

Commissural Facial Cleft

Transverse facial clefts are rare deformities, these mostly occur as part of syndromes such as facial dysostosis and branchial arch syndrome. [scienceopen.com]

Ali Tahir May be associated with ‘Mandibulo facial dysostosis’ Extends from commissures towards the ear May be unilateral or bilateral Failure of fusion of lateral nasal [slideshare.net]

Le Fort III is often used also to correct craniofacial dysostosis and related facial abnormalities. [bioportfolio.com]

Craniofacial Dyssynostosis

Cranio-Facial Dysostosis of Crouzon. Pediatrics. 1950 Jan 1;5(1):90–6. Kumar DS, Murugesan D, Murugan K, Subramanian D, Maheshwari SU. [editorial.ucsg.edu.ec]

Nager anomaly with severe facial involvement, microcephaly, and mental retardation. Am J Med Genet 1990:36:356-357. Opitz JM, Lacombe D. [medigraphic.com]

Acrofacial dysostosis 1, Nager Type http://orpha.net/data/patho/GB/uk-nager.pdf May 2003. Thapa R, Pramanik S, Mukhopadhyay M, Ghosh A. Nager acrofacial dysostosis. [medigraphic.com]

Treacher-Collins Syndrome Type 2

Treacher Collins Syndrome (mandibulofacial dysostosis) Disease Entity Treacher Collins syndrome (TCS), or mandibulofacial dysostosis, is a genetic condition characterized [eyewiki.aao.org]

The classical signs of mandibulo-facial dysostosis include the following: (1) lack of development of the auricle, which may be associated with atresia of the external auditory [jamanetwork.com]

Clavicular Hypoplasia with Zygomatic Arch Hypoplasia and Micrognathia

Treacher-Collin syndrome, also known as Berry-Franceschetti-Klein or Franceschetti-Zwahlen-Klein, mandibulo-facial dysostosis or first arc syndrome, is a dominant autosomic [pesquisa.bvsalud.org]

Result: After three years of treatment, the facial definition is better, the eruption of permanent pieces retained and better chewing function. [pesquisa.bvsalud.org]

dysostosis or first arc syndrome, is a dominant autosomic disorder of the craniofacial development and may have innumerous clinical manifestations. [pesquisa.bvsalud.org]

Biemond Syndrome Type 2

Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. [orpha.net]

dysostosis. [ncbi.nlm.nih.gov]

[…] is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial [ncbi.nlm.nih.gov]

Cranioacrofacial Syndrome

Mandibulo facial dysostosis Eyelid coloboma [link.springer.com]

The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. [pubmed.ncbi.nlm.nih.gov]

Facial dysostosis: etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013;163C:283-294. http://www.ncbi.nlm.nih.gov/pubmed/24123981 Wieczorek D. [rarediseases.org]

Acrodysostosis Type 1

Note the facial dysostosis and severe maxilla-nasal hypoplasia. Photograph (c) and radiograph (d) of the left hand. [iofbonehealth.org]

dysostosis. [exeterlaboratory.com]

Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations [bioportfolio.com]

Biemond Syndrome

dysostosis. [checkorphan.org]

Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. [rarediseases.info.nih.gov]

Mandibulofacial Dysostosis Syndrome Bauru Type

The facial appearance of our patient was similar ofthat described by Marcano and Richieri-Costa [1998]with typical signs of mandibulofacial dysostosis (Figs.26). [fdocuments.in]

Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am J Dis Child. 1967;113(4):405–410. [journals.sagepub.com]

Introduction of Mandibulofacial Dysostosis Mandibulofacial Dysostosis is a disorder characterized by deformities of the facial bones and skull. [aimerpute.com]

Odonto-Onycho Dysplasia with Alopecia

Sci 73, 604–606 (1976) CrossRef PubMed CAS Google Scholar Gorlin, R J, Psaume, J: Oro-digito-facial dysostosis. A new syndrome. J. [link.springer.com]

Acrofacial Dysostosis Type Palagonia

[…] of the mandibulofacial dysostosis, toriello type Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy–Teebi Laryngeal malformations [documentslide.com]

[…] by body site 123946008 Disorder of head 118934005 Disorder of face 118930001 Disorder of facial bone 128225009 Congenital anomaly of face bones 32003007 Acrofacial dysostosis [findacode.com]

The combination of severemicrogna-thia with phocomelia was highly suggestive for an acro-facial dysostosis (AFD). [docslide.fr]

Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

Acro-Cranio-Facial Dysostosis Syndrome 103 Fig. 8. Feet, patient 2: a) birth, b) 3% yr. [docslide.us]

Genée E (1969) An extensive form of mandibulo‐facial dysostosis. Journal de Génétique Humaine 17(1): 45–52. [els.net]

Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am J Dis Child. 1967;113:405–10. [ncbi.nlm.nih.gov]

Syndesmodysplasic Dwarfism

[…] acral with facial and genital abnormalities Dysostosis peripheral Dysostosis Stanescu type Dysostosis Dysphasic dementia, hereditary Dysphonia, chronic spasmodic Dysplasia [wikidoc.org]

Dyskinesia, drug induced Dyskinesia Dysmorphism abnormal vocalization mental retardation Dysmorphism cleft palate loose skin Dysmorphophobia Dysmyelination Dysosteosclerosis Dysostosis [bioreference.net]

[…] drug induced Dyskinesia Dysm-Dyss Dysmorphism abnormal vocalization mental retardation Dysmorphism cleft palate loose skin Dysmorphophobia Dysmyelination Dysosteosclerosis Dysostosis [wikidoc.org]

Dysostosis

Several distinct facial dysostosis syndromes have been described including Treacher Collins syndrome, mandibulofacial dysostosis with microcephaly, Miller syndrome and Nager [dnatesting.uchicago.edu]

This article describes the dental skeletal and aesthetic features that characterize Mandibulo-facial dysostosis and Hemifacial microsomia. [publicatt.unicatt.it]

Keywords: Mandibulo facial dysostosi, micrognathism, coloboma. [escipub.com]

Acro-Fronto-Facio-Nasal Dysostosis

TY - JOUR T1 - A new acro-cranio-facial dysostosis syndrome in sisters. [wwww.unboundmedicine.com]

dysostosis: new hereditary syndrome, 1949, Acta Ophtalmol, 27, p. 143-224 ^ The Treacher Collins Syndrome Collaborative Group, Positional cloning of a gene involved in the [ja.wikipedia.org]

[…] of bone of skull 128219005 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Hereditary disorder of musculoskeletal system 363212003 Lesion [findacode.com]

Craniosynostosis - Contractures - Cleft

PMID: 14564220 Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi. Ruiter M, van Dijken PJ, de Vries BB. [pubmed.ncbi.nlm.nih.gov]

Nager Syndrome AD 94.86 33 of 40 SPECC1L Facial Clefting, Oblique, Hypertelorism, Opitz Gbbb Syndrome, Autosomal Dominant AD 99.66 14 of 14 THRA Congenital Nongoitrous Hypothyroidism [igenomix.es]

Holoprosencephaly AD 98.89 498 of 502 RAB23 Carpenter Syndrome AR 100 15 of 15 SEMA3E Charge Syndrome, Hypogonadotropic Hypogonadism Without Anosmia AD,AR 99.81 6 of 7 SF3B4 Acrofacial Dysostosis [igenomix.es]

Dincsoy-Salih-Patel Syndrome

[…] acral with facial and genital abnormalities Dysostosis peripheral Dysostosis Stanescu type Dysostosis Dysphasic dementia, hereditary Dysphonia, chronic spasmodic Dysplasia [bionity.com]

[…] acral with facial and genital abnormalities * Dysostosis peripheral * Dysostosis Stanescu type * Dysostosis * Dysphasic dementia, hereditary * Dysphonia, chronic spasmodic [enacademic.com]

Robinow Syndrome

[…] birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal [wikidata.org]

シソーラス検索結果同義語（異表記）： Acral Dysostosis with Facial and Genital Abnormalities Autosomal Dominant Robinow Syndrome Fetal Face Syndrome Mesomelic Dwarfism-Small Genitalia Syndrome [lsd-project.jp]

Acronym DRS1 Synonyms Acral dysostosis with facial and genital abnormalities Fetal face syndrome Robinow dwarfism Keywords Disclaimer Any medical or genetic information present [uniprot.org]