ORPHA:2616
3M syndrome
Synonyms: 3-M syndrome · Yakut short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3M syndrome | 3-M syndrome · Yakut short stature syndrome |
| fr | Syndrome 3M | Nanisme 3M · Petite taille type iakoute · Petite taille type yakoute · Syndrome 3-M |
| de | 3M-Syndrom | Kleinwuchssysndrom Yakut |
| es | Síndrome 3M | Síndrome 3-M · Síndrome de talla baja de Yakut |
| it | Sindrome 3M | Displasia dolicospondilica · Sindrome 3-M · Sindrome da bassa statura di Yakut · Sindrome della faccia cupa · Sindrome di Le Merrer |
| nl | 3M-syndroom | 3-M-syndroom · Kleine gestalte-syndroom, Yakut-type |
| pt | Síndrome 3M | Displasia dolicospondilítica · Síndrome Le Merrer · Síndrome face tristonha |
| pl | Zespół 3M | Dysplazja dolichosponydyliczna · Zespół 3-M · Zespół Le Merrer · Zespół niskiego wzrostu Yakutów · Zespół ponurej/posępnej/ twarzy |
| cs | 3M syndrom | 3-M syndrom · Dolichospondylická dysplázie · Le Merrerové syndrom · Jakutský syndrom nízkého vzrůstu · Syndrom zasmušilé tváře |
| uk | Синдром 3М | Синдром 3-М · Якутський синдром низького зросту |
| zh | 3M综合征 | 雅库特身材矮小症 |
| tr | 3M sendromu | 3-M sendromu · Le Merrer sendromu · Kasvetli yüz sendromu · Dolikospondilik displazi · Yakut kısa boy sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273750 | E | validated | |
| OMIM | 612921 | BTNT | validated | |
| OMIM | 614205 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0007477 | E | validated | |
| MeSH | C535314 | E | validated | |
| UMLS | C1848862 | E | validated | |
| GARD | 5667 | E | validated | |
| MedDRA | 10081775 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2661Dwarfism-tall vertebrae syndrome moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC8 | Disease-causing germline mutation(s) in | Assessed | HGNC:25367 | ENSG00000169515 | 614145 | 19q13.32 | coiled-coil domain containing 8 subunit of 3M complex | 20301654[PMID]_21737058[PMID] |
| CUL7 | Disease-causing germline mutation(s) in | Assessed | HGNC:21024 | ENSG00000044090 | 609577 | 6p21.1 | cullin 7 | 20301654[PMID] |
| OBSL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29092 | ENSG00000124006 | 610991 | 2q35 | obscurin like cytoskeletal adaptor 1 | 20301654[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET_22624670[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000337 | Broad forehead | |
| HP:0000414 | Bulbous nose | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002007 | Frontal bossing | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0008839 | Hypoplastic pelvis | |
| HP:0003173 | Hypoplastic pubic bone | |
| HP:0004570 | Increased vertebral height | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0011800 | Midface retrusion | |
| HP:0001838 | Rocker bottom foot | |
| HP:0003691 | Scapular winging | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0003100 | Slender long bone | |
| HP:0000574 | Thick eyebrow | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000268 | Dolichocephaly | |
| HP:0100625 | Enlarged thorax | |
| HP:0000888 | Horizontal ribs | |
| HP:0003307 | Hyperlordosis | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0002983 | Micromelia | |
| HP:0000307 | Pointed chin | |
| HP:0000411 | Protruding ear | |
| HP:0010306 | Short thorax | |
| HP:0000883 | Thin ribs | |
| Occasional (29-5%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0000144 | Decreased fertility | |
| HP:0000047 | Hypospadias | |
| HP:0002808 | Kyphosis | |
| HP:0002650 | Scoliosis | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2616
- This record as JSON: /data/d/2616.json