Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Synonyms: ERF-related syndromic craniosynostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare syndromic craniosynostosis characterized by developmental delay, poor gross and/or fine motor control, speech and language delay, learning difficulties and/or behavioral problems (including hyperactivity and poor concentration), facial dysmorphism and Chiari-1 malformation (not always present). Most of the patients present with postnatal-onset, progressive multisutural synostosis, including sagittal and uni/bi-lambdoid sutures (predominated patterns), coronal synostosis or pansynostosis. Permanent visual impairment due to raised intracranial pressure was reported in some patients. Facial dysmorphism including prominent forehead, orbital hypertelorism, mild exorbitism and malar hypoplasia, medial epicanthic folds and short up-turned nose is commonly observed. Hydrocephalus, macrocephaly, low set ears, dysplactic auricles, long philtrum, vertical displacement of the nose and high arched palate are also reported in some patients. Additional clinical findings may include hearing impairment and mild shortening of the digits.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome | ERF-related syndromic craniosynostosis |
| fr | Syndrome de craniosynostose-dysmorphie faciale-malformation de Chiari-retard de language et du développement | |
| de | Kraniosynostose-Gesichtsdysmorphien-Chiari-Malformation Typ 1-Entwicklungs- und Sprachverzögerung-Sndrom | Kraniosynostose, syndromale, ERF-assoziierte |
| es | Síndrome de craneosinostosis-dismorfia facial-malformación de Chiari 1-retraso del desarrollo y del lenguaje | Craneosinostosis sindrómica asociada al gen ERF |
| it | Sindrome craniosinostosi-dismorfismi facciali-malformazione di Chiari tipo 1-ritardo dello sviluppo e del linguaggio | Craniosinostosi sindromica correlata a ERF |
| nl | Craniosynostose - faciale dysmorfie - Chiari-malformatie type 1 - ontwikkelings- en taalachterstand-syndroom | ERF-gerelateerde syndromale craniosynostose |
| pt | Síndrome de craniossinostose-dismorfia facial-malformação Chiari 1-perturbação do desenvolvimento e atraso de linguagem | Craniossinostose ERF-relacionada sindrómica |
| pl | Zespół kraniosynostozy – dysmorfii twarzy - wady rozwojowej Chiari-1 – opóźnienia rozwoju i mowy | = en |
| cs | Syndrom zahrnující kraniosynostózu, faciální dysmorfii, Chiariho malformaci typu 1 a opoždění vývoje a řeči | = en |
| uk | Синдром краніосиностозу-лицьового дизморфізму-вади Кіарі-1-затримки розвитку та мовлення | Синдром краніосиностозу, повязаний з ERF |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600775 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0957473 | E | validated | |
| UMLS | C5816752 | 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 (1):
- ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERF | Disease-causing germline mutation(s) in | Assessed | HGNC:3444 | ENSG00000105722 | 611888 | 19q13.2 | ETS2 repressor factor | 36209295[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647681
- This record as JSON: /data/d/647681.json