ORPHA:921
Abruzzo-Erickson syndrome
Synonyms: CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome · Cleft palate-coloboma-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal
- Status
- active
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Abruzzo-Erickson syndrome | CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome · Cleft palate-coloboma-hearing loss syndrome |
| fr | Syndrome d'Abruzzo-Erickson | Syndrome de fente palatine-colobome-surdité |
| de | Abruzzo-Erickson-Syndrom | CHARGE-ähnliches Syndrom · Kieferspalte - Kolobom - Innenohrtaubheit |
| es | Síndrome de Abruzzo-Erickson | Síndrome de paladar hendido-coloboma-hipoacusia · Síndrome de paladar hendido-coloboma-sordera · Síndrome tipo CHARGE |
| it | Sindrome di Abruzzo-Erickson | Sindrome palatoschisi-coloboma-sordità |
| nl | Syndroom van Abruzzo-Erickson | CHARGE-achtig syndroom · Gespleten verhemelte - coloboom - doofheid-syndroom |
| pt | Síndrome Abruzzo-Erickson | Síndrome CHARGE-like · Síndrome de fenda palatina-coloboma-sinostose radial-surdez |
| pl | Zespół Abruzzo i Ericksona | Zespół podobny do zespołu CHARGE · Zespół rozszczepu podniebienia, szczeliny gałki ocznej i głuchoty |
| cs | Abruzzoův-Ericksonův syndrom | CHARGE-like syndrom · Syndrom zahrnující rozštěp patra, kolobom a hluchotu · Abruzzo-Ericksonův syndrom |
| uk | Синдром Абруццо-Еріксона | CHARGE-подібний синдром · Синдром розщілини піднебіння-колобоми-глухоти · Синдром розщілини піднебіння-колобоми-глухоти |
| zh | Abruzzo-Erickson综合征 | 腭裂-眼缺损-听力丧失综合征 |
| tr | Abruzzo-Erickson sendromu | CHARGE-benzeri sendrom · Yarık damak-koloboma-sağırlık sendromu · Yarık damak-kolobom-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302905 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010554 | E | validated | |
| MeSH | C535559 | E | validated | |
| UMLS | C1844862 | E | validated | |
| GARD | 360 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX22 | Disease-causing germline mutation(s) in | Assessed | HGNC:11600 | ENSG00000122145 | 300307 | Xq21.1 | T-box transcription factor 22 | 22784330[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 839509[PMID]_[EXPERT] | |
| 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.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0008743 | Coronal hypospadias | |
| HP:0012368 | Flat face | |
| HP:0000047 | Hypospadias | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000589 | Coloboma | |
| HP:0000612 | Iris coloboma | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0009465 | Ulnar deviation of finger | |
| Occasional (29-5%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0001631 | Atrial septal defect | |
| HP:0001156 | Brachydactyly | |
| HP:0010751 | Chin dimple | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0000482 | Microcornea | |
| HP:0001831 | Short toe | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/921
- This record as JSON: /data/d/921.json