Bainbridge-Ropers syndrome
Synonyms: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bainbridge-Ropers syndrome | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| fr | Syndrome de Bainbridge-Ropers | Syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3 |
| de | Bainbridge-Ropers-Syndrom | Schwere Fütterprobleme mit Gedeihstörungen und Mikrozephalie durch ASXL3-Mangel |
| es | Síndrome de Bainbridge-Ropers | Síndrome de dificultades graves en la alimentación-fallo de medro-microcefalia por deficiencia de ASXL3 |
| it | Sindrome di Bainbridge-Roppers | Sindrome da gravi difficoltà di alimentazione, ritardo della crescita e microcefalia da deficit di ASXL3 |
| nl | Syndroom van Bainbridge-Ropers | Ernstige voedingsproblemen - niet-gedijen - microcefalie door deficiëntie van ASXL3-syndroom |
| pt | Síndrome Brainbridge-Ropers | Síndrome de dificuldades alimentares graves-falência no crescimento-microcefalia devido a deficiência ASXL3 |
| pl | Ciężkie trudności w karmieniu - zahamowanie wzrostu - małogłowie spowodowane niedoborem ASXL3 | Zespół Bainbridge'a i Roppersa |
| cs | Syndrom zahrnující těžkou poruchu příjmu potravy, neprospívání a mikrocefalii, způsobený deficitem ASXL3 | Bainbridgeův-Roppersův syndrom · Bainbridge-Roppersův syndrom |
| uk | Синдром Бейнбриджа-Роперса | Синдром виражених труднощів з харчуванням - відставання у розвитку - мікроцефалії через дефіцит ASXL3 |
| zh | ASXL3基因缺陷所致严重喂养困难-发育停滞-小头畸形综合征 | Bainbridge-Ropers综合征 |
| tr | ASXL3 eksikliği sendromuna bağlı ağır beslenme zorlukları-gelişememe-mikrosefali | Bainbridge-Ropers sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615485 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014205 | E | validated | |
| MeSH | C000726367 | E | validated | |
| UMLS | C4750837 | E | validated | |
| GARD | 13259 | 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 (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASXL3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29357 | ENSG00000141431 | 615115 | 18q12.1 | ASXL transcriptional regulator 3 | 23383720[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 77 cases | Worldwide | Case(s) | Validated | 28955728[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28955728[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
41 annotations · validated 2019-08-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0002705 | High, narrow palate | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001166 | Arachnodactyly | |
| HP:0000414 | Bulbous nose | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0004673 | Decreased facial expression | |
| HP:0000678 | Dental crowding | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0002540 | Inability to walk | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0003189 | Long nose | |
| HP:0009765 | Low hanging columella | |
| HP:0000194 | Open mouth | |
| HP:0001763 | Pes planus | |
| HP:0011220 | Prominent forehead | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0100023 | Recurrent hand flapping | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0000664 | Synophrys | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31180560[PMID]_27901041[PMID]_28100473[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352577
- This record as JSON: /data/d/352577.json