Three M syndrome 1

Preferred Label : Three M syndrome 1;

Symbol : 3M1;

CISMeF acronym : 3M1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3m syndrome; Le merrer syndrome; Dolichospondylic dysplasia; Gloomy face syndrome;

Included titles and symbols : Yakut short stature syndrome;

Description : 3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by Badina et al., 2011). - Genetic Heterogeneity of 3M Syndrome Also see 3M syndrome-2 (3M2; 612921), caused by mutation in the OBSL1 gene (610991) on chromosome 2q35, and 3M syndrome-3 (3M3; 614205), caused by mutation in the CCDC8 gene (614145) on chromosome 19q13.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cullin 7 gene (CUL7, 609577.0001);

Prefixed ID : #273750;

Details

Origin ID

273750;

UMLS CUI

C2678312;

Automatic exact mappings (from CISMeF team)
- 3M syndrome [ICD-11 More detail]
- 3M syndrome [MedDRA Preferred Term]
Broader ORDO disease(s)
- 3M syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- 3-M syndrome [DO Concept]
- 3M syndrome [ORDO Disease]
- Dolichospondylic dysplasia (disorder) [SNOMED CT concept]
- Miller-McKusick-Malvaux-Syndrome (3M Syndrome) [MeSH concept]
- Miller-McKusick-Malvaux-Syndrome (3M syndrome) [MeSH Supplementary Concept]
- dolichospondylic dysplasia [Disease (Nov.)]
- three M syndrome 1 [MeSH concept]
DO Cross reference
- 3-M syndrome [DO Concept]
Genes related to phenotype
- Cullin 7 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Decreased testicular size [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionately tall vertebral bodies [HPO term]
- Dolichocephaly [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Growth delay [HPO term]
- Hip dislocation [HPO term]
- Hyperlordosis [HPO term]
- Hypoplastic pelvis [HPO term]
- Hypoplastic ribs [HPO term]
- Hypospadias [HPO term]
- Increased vertebral height [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint dislocation [HPO term]
- Joint hypermobility [HPO term]
- Long philtrum [HPO term]
- Low nasal bridge [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Neonatal respiratory distress [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Postnatal growth retardation [HPO term]
- Scapular winging [HPO term]
- Short 5th finger [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Short thorax [HPO term]
- Slender long bone [HPO term]
- Small for gestational age [HPO term]
- Small pelvis [HPO term]
- Spina bifida occulta [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Triangular face [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- 3M syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- three M syndrome 1 [MeSH concept]

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