About: 3-M syndrome

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3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and

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rdfs:label	متلازمة M-3 (ar) 3M-Syndrom (de) 3-M syndrome (en) Síndrome 3-M (es) Nanisme 3M (fr) Zespół "trzech M" (pl)
rdfs:comment	متلازمة 3-M(بالإنجليزية: 3-M syndrome)‏ هو اضطراب نادر يسبب قصر في القامة (تقزم)، وتكون ملامح الوجه غير عادية، مرافقا بتشوهات في الهيكل العظمي. اسم هذه المتلازمة يأتي من الأحرف الأولى من ثلاثة باحثين الذين حددواهذا المرض لأول مرة: ميلر (Miller)، موكوسيك (McKusick)، مالفوكس (Malvaux)، ولها أسماء أخرى عديدة منها: ثلاثة M متلازمة أو نموّ dolicospondylic الشاذ؛ متلازمة لو ميرير Merrer أو المتلازمة الكئيبة (بسبب الأعراض السائدة التي تعطي وجه كئيب للمصابين). (ar) Décrit pour la première fois en 1975, le nanisme 3M est caractérisé par un retard de croissance pré- et post-natal, des anomalies osseuses et un visage caractéristique. Le développement et l'intelligence sont normaux. (fr) Zespół "trzech M", zespół Le Merrera (ang. 3M syndrome, dolichospondylic dysplasia, gloomy face syndrome, le Merrer syndrome) – rzadki zespół wad wrodzonych. Nazwa zespołu pochodzi od nazwisk trzech lekarzy, którzy opisali go w 1976 roku: Millera, McKusicka i Malvauxa. Cechami zespołu są niskorosłość, cechy dysmorficzne twarzy i wady kośćca. Opóźnienie umysłowe nie jest cechą zespołu. Przyczyną choroby są mutacje genu kodującego kullinę 7, pełniącą funkcję ligazy ubikwityny. Dziedziczenie jest autosomalne recesywne. (pl) Das 3M-Syndrom ist eine sehr seltene angeborene Skelettdysplasie mit bereits im Mutterleibe einsetzendem Kleinwuchs, mit auffälliger Kopf- und Gesichtsform sowie mit Veränderungen an den Rippen und den Wirbelkörpern. Synonyme sind: Dolichospondyläre Dysplasie; Gloomy-Syndrom; Le-Merrer-Syndrom; Kleinwuchssysndrom Yakut Die Bezeichnung "3M" bezieht sich auf die Anfangsbuchstaben der Familiennamen der drei ersten Autoren in der Erstbeschreibung von 1975. (de) 3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and (en) El síndrome 3-M (también conocido como síndrome de la cara sombría, displasia dolicoespondilitica, síndrome de Le Merrer o síndrome de Yakut) es una enfermedad rara y hereditaria, caracterizada por un severo , que comienza ya en el útero materno, determinadas facciones y una inteligencia normal. Puede presentar numerosas características adicionales, que se recogerán posteriormente en el apartado de Síntomas. (es)
foaf:name	3-M syndrome (en)
name	3 (xsd:integer)
dcterms:subject	Syndromes with craniofacial abnormalities Syndromes with short stature Disorders of synthesis of DNA, RNA, and proteins Rare syndromes
Wikipage page ID	17533758 (xsd:integer)
Wikipage revision ID	1087515238 (xsd:integer)
Link from a Wikipage to another Wikipage	Prenatal testing Proteasome Endochondral ossification Hypospadias CCDC8 Syndromes with craniofacial abnormalities Syndromes with short stature Genetic heterogeneity Chondrocyte Dentist Pediatrics Disorders of synthesis of DNA, RNA, and proteins Rare syndromes Plastic surgery Birth defect Homogeneity and heterogeneity Pathogenesis Growth hormone Facial dysmorphism Autosomal Recessive Radiography CUL7 Microtubule Scaffold protein Ubiquitin OBSL1 Hyperlordosis Orthopedist Dental procedure dbr:OBS1
sameAs	3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome 3-M syndrome
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DiseasesDB	33510 (xsd:integer)
ICD	(en) Q87.1 (en) xxx (en)

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