ORPHA:1225
Baller-Gerold syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndromic craniosynostosis characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Baller-Gerold syndrome | |
| fr | Syndrome de Baller-Gerold | Syndrome de craniosynostose-aplasie radiale |
| de | Baller-Gerold-Syndrom | Syndrom der Kraniosynostose und Radiusaplasie |
| es | Síndrome de Baller-Gerold | |
| it | Sindrome di Baller-Gerold | Craniosinostosi - aplasia radiale |
| nl | Syndroom van Baller-Gerold | |
| pt | Síndrome Baller-Gerold | Síndrome de craniossinostose-aplasia radial |
| pl | Zespół Ballera i Gerolda | |
| cs | Ballerův-Geroldův syndrom | Baller-Geroldův syndrom |
| uk | Синдром Баллера-Герольда | |
| zh | Baller-Gerold综合征 | |
| tr | Baller-Gerold sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218600 | E | validated | |
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0009039 | E | validated | |
| MeSH | C536788 | E | validated | |
| UMLS | C0265308 | E | validated | |
| GARD | 1602 | E | validated | |
| MedDRA | 10083963 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RECQL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9949 | ENSG00000160957 | 603780 | 8q24.3 | RecQ like helicase 4 | 20301383[PMID]_15964893[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 29080750[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29080750[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.
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HPO phenotypes
43 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000248 | Brachycephaly | |
| HP:0000244 | Brachyturricephaly | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0009380 | Finger aplasia | |
| HP:0002007 | Frontal bossing | |
| HP:0001510 | Growth delay | |
| HP:0000239 | Large fontanelles | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001191 | Abnormal carpal morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000218 | High palate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002024 | Malabsorption | |
| HP:0000160 | Narrow mouth | |
| HP:0003196 | Short nose | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0002023 | Anal atresia | |
| HP:0000337 | Broad forehead | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000286 | Epicanthus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000601 | Hypotelorism | |
| HP:0002665 | Lymphoma | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000639 | Nystagmus | |
| HP:0002669 | Osteosarcoma | |
| HP:0001029 | Poikiloderma | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002650 | Scoliosis | |
| HP:0100589 | Urogenital fistula | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1225
- This record as JSON: /data/d/1225.json