Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
Synonyms: FOSL2-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital aplasia cutis of variable size along the midline of the scalp, tooth enamel hypoplasia and discoloration, and delayed psychomotor development or intellectual disability. Additional clinical features may include intrauterine or postnatal growth retardation, autism spectrum disorder, congenital cataracts, skull defects and seizures.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome | FOSL2-related neurodevelopmental disorder |
| fr | Syndrome d'aplasie cutanée congénitale du cuir chevelu-hypoplasie de l'émail-retard de développement-déficience intellectuelle | Trouble du neurodéveloppement associé à FOSL2 |
| de | Kongenitale Aplasie der Kopfhaut-Zahnschmelzhypoplasie-Entwicklungsverzögerung-Intelligenzminderung-Syndrom | ACED · Aplasia cutis congenita-Zahnschmelzhypoplasie-Syndrom · Neurologische Entwicklungsstörung, FOSL2-assoziierte |
| es | Síndrome de aplasia cutis congénita del cuero cabelludo-hipoplasia del esmalte-retraso del desarrollo-discapacidad intelectual | Trastorno del neurodesarrollo asociado a FOSL2 |
| it | Sindrome aplasia congenita della cute del cuoio capelluto-ipoplasia dello smalto-ritardo dello sviluppo-disabilità intellettiva | Malattia del neurosviluppo correlata a FOSL2 |
| nl | Congenitale aplasia cutis van scalp - hypoplasie van tandglazuur - ontwikkelingsachterstand - intellectuele achterstand-syndroom | FOSL2-gerelateerde neurologische ontwikkelingsstroonis |
| pt | Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome | |
| pl | Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome | = en |
| cs | Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620789 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | not yet 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOSL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3798 | ENSG00000075426 | 601575 | 2p23.2 | FOS like 2, AP-1 transcription factor subunit | 36197437[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/697356
- This record as JSON: /data/d/697356.json