Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
Synonyms: BCAS3-related neurodevelopmental disorder · Hengel-Maroofian-Schols syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by infancy/early childhood-onset severe global developmental delay (manifests mostly by delayed sitting and walking/inability to walk), severe intellectual disability with minimal or no speech, pyramidal signs (including lower limb spasticity, hyperreflexia, spastic gait and feet contractures), short stature, microcephaly and dysmorphic facial features (including a long face, strabismus, short philtrum, open mouth, full lips or everted lower lip and teeth abnormalities). Seizures and dystonic/dyskinetic movements may also be present in some patients.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome | BCAS3-related neurodevelopmental disorder · Hengel-Maroofian-Schols syndrome |
| fr | Syndrome de retard global du développement-déficience intellectuelle-microcéphalie-petite taille-accumulation intracérébral de fer | Syndrome de Hengel-Maroofian-Schols · Trouble neurologique du développement associé à BCAS3 |
| de | Hengel-Maroofian-Schols-Syndrom | Neurologische Entwicklungsstörung, BCAS3-assoziierte · Syndromale globale Entwicklungsverzögerung mit Intelligenzminderung, Mikrozephalie, Kleinwuchs und Eisenakkumulation im Gehirn |
| es | Síndrome de retraso global del desarrollo-discapacidad intelectual-microcefalia-talla baja con acúmulo cerebral de hierro | Síndrome de Hengel-Maroofian-Schols · Trastorno del neurodesarrollo asociado a BCAS3 |
| it | Sindrome ritardo dello sviluppo globale-disabilità intellettiva-microcefalia-bassa statura-accumulo di ferro nel cervello | Sindrome di Hengel-Maroofian-Schols · Malattia del neurosviluppo correlata a BCAS3 |
| nl | Algehele ontwikkelingsachterstand - intellectuele achterstand - microcefalie - kleine gestalte - accumulatie van ijzer in hersenen-syndroom | BCAS3-gerelateerde neurologische ontwikkelingsstroonis · HEMARS · Syndroom van Hengel-Maroofian-Schols |
| pt | BCAS3-related neurodevelopmental disorder | |
| pl | Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome | = en |
| cs | Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619641 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCAS3 | Disease-causing germline mutation(s) in | Assessed | HGNC:14347 | ENSG00000141376 | 607470 | 17q23.2 | BCAS3 microtubule associated cell migration factor | 34022130[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/697067
- This record as JSON: /data/d/697067.json