Three M syndrome 3

Preferred Label : Three M syndrome 3;

Symbol : 3M3;

CISMeF acronym : 3M3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3m syndrome 3;

Description : The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (273750).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coiled-coil domain-containing protein 8 gene (CCDC8, 614145.0001);

Prefixed ID : #614205;

Details

Origin ID

614205;

UMLS CUI

C3280146;

Automatic exact mappings (from CISMeF team)
- 3M syndrome [ORDO Disease]
- coiled-coil domain containing 8 [ORDO Gene]
- coiled-coil domain containing 8 [HGNC gene]
DO Cross reference
- 3-M syndrome [DO Concept]
Genes related to phenotype
- Coiled-coil domain-containing protein 8 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Decreased body weight [HPO term]
- Dolichocephaly [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Hip dysplasia [HPO term]
- Hyperlordosis [HPO term]
- Increased vertebral height [HPO term]
- Joint hypermobility [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Pointed chin [HPO term]
- Prominent calcaneus [HPO term]
- Prominent nasal tip [HPO term]
- Protruding ear [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Short thorax [HPO term]
- Slender long bone [HPO term]
- Small for gestational age [HPO term]
- Thick vermilion border [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- 3M syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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