Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
Synonyms: LEMD2-associated nuclear envelopathy with early progeroid appearance · Marbach-Rustad progeroid syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumenary teeth and delayed dentition), microcephaly, skeletal features including Wormian bones and hypoplastic clavicles, generalized lipoathrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wormian bones-micrognathia-abnormal dentition-progeroid syndrome | LEMD2-associated nuclear envelopathy with early progeroid appearance · Marbach-Rustad progeroid syndrome |
| fr | Syndrome des os wormiens-micrognathie-dentition anormale-apparence progéroïde | Anomalie de l'enveloppe nucléaire avec d'apparence progéroïde précoce lié à LEMD2 · Syndrome d'apparence progéroïde de Marbach-Rustad |
| de | Wormsche Knochen-Mikrognathie-abnormale Dentition-Progeroid-Syndrom | LEMD2-assoziierte nukleäre Envelopathie mit frühem progeroidem Erscheinungsbild · Marbach-Rustad-Progeroid-Syndrom |
| es | Huesos wormianos-micrognatia-dentición anómala-síndrome progeroide | Envelopatía nuclear asociada a LEMD2 con apariencia progeroide precoz |
| it | Sindrome ossa wormiane-micrognazia-anomalie della dentizione-aspetto progeroide | Anomalie della membrana nucleare correlate a LEMD2 con aspetto progeroide precoce · Sindrome progeroide di Marbach-Rustad |
| nl | Wormiaanse botstructuren - micrognathie - abnormaal gebit - progeroïde kenmerken-syndroom | LEMD2-geassocieerde nucleaire envelopathie met vroegtijdig progeroïd uiterlijk · Progeroïd syndroom van Marbach-Rustad |
| pt | Síndrome de ossos wormianos-micrognatia-anomalias da dentição-progeria | Envelopatia nuclear com aparência progeroide precoce LEMD2-associada · Síndrome Marbach-Rustad progeroide |
| pl | Zespół z kostkami Worma, mikrognacją, nieprawidłowym uzębieniem i cechami progeroidalnymi | = en |
| cs | Syndrom zahrnující wormianské kůstky, mikrognatii, abnormální dentici a progerii | = en |
| uk | Синдром червʼякових кісток-мікрогнатії-аномалії зубного ряду-прогерії | LEMD2-асоційована ядерна енцефалопатія з ранньою появою прогероїдів · Прогероїдний синдром Марбаха-Рустада |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619322 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0859147 | E | validated | |
| MONDO | 859147 | E | validated | |
| UMLS | C5543388 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LEMD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21244 | ENSG00000161904 | 616312 | 6p21.31 | LEM domain nuclear envelope protein 2 | 37867468[PMID]_30905398[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30905398[PMID]_37867468[PMID]_ORPHANET |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 30905398[PMID]_37867468[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/659873
- This record as JSON: /data/d/659873.json