Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
Synonyms: ARCN1-related syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth restriction, microcephaly, short stature, rhizomelic shortening and facial dysmorphism (including prominent forehead, downslanted palpebral fissures, bulbous nasal tip, large or prominent ears and notably severe micrognathia). Developmental delay is commonly reported, intellectual disability may also be present. Additional clinical features may include genitourinary malformations in males, transient liver dysfunction, glycosylation abnormalities, giant cell hepatitis, hepatoblastoma, and cataracts. Severity of the disease varies from mild to very severe which may lead to intrauterine death or stillbirth in some cases.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | ARCN1-related syndrome |
| fr | Syndrome de retard de croissance intra-utérin-micrognathie-petite taille-raccourcissement mésomélique | Syndrome associé à ARCN1 |
| de | Intrauterine Wachstumsretardierung-Mikrognathie-rhizomeler Kleinwuchs-Gesichtsdysmorphie-Syndrom | ARCN1-assoziiertes Syndrom · Kleinwuchs-Mikrognathie-Syndrom |
| es | Síndrome de retraso del crecimiento intrauterino-micrognatia-talla baja-dismorfia facial-acortamiento rizomélico | Síndrome asociado a ARCN1 |
| it | Sindrome ritardo della crescita prenatale-micrognazia-bassa statura-dismorfismi facciali-accorciamento rizomelico degli arti | Sindrome correlata a ARCN1 |
| nl | Intra-uteriene groeiretardatie - micrognathie - kleine gestalte - faciale dysmorfie - rhizomele verkorting-syndroom | ARCN1-gerelateerd syndroom |
| pt | Síndrome de restrição do crescimento intrauterino-micrognatia-baixa estatura-dismorfia facial-encurtamento rizomélico | Síndrome ARCN1-relacionada |
| pl | Zespół z opóźnieniem wzrastania wewnątrzmacicznego, mikrognacją, niskorosłością, dysmorfią twarzy i rizomelicznym skróceniem kończyn | = en |
| cs | Syndrom zahrnující intrauterinní opoždění růstu, mikrognatii, malý vzrůst, faciální dysmorfii a rizomelické zkrácení | = en |
| uk | Синдром внутрішньоутробної затримки росту-мікрогнатії-низькорослості-дизморфізму обличчя-ризомелічного вкорочення | Синдром, повязаний з ARCN1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617164 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0014948 | E | validated | |
| MONDO | 14948 | E | validated | |
| UMLS | C5925140 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARCN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:649 | ENSG00000095139 | 600820 | 11q23.3 | archain 1 coat protein complex I subunit delta | 35300924[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 35300924[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35300924[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/659702
- This record as JSON: /data/d/659702.json