ORPHA:2211
Hypertelorism-hypospadias-polysyndactyly syndrome
Synonyms: Acrofrontofacionasal dysostosis type 2 · Acrofrontofacionasal syndrome type 2 · Naguib-Richieri-Costa syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertelorism-hypospadias-polysyndactyly syndrome | Acrofrontofacionasal dysostosis type 2 · Acrofrontofacionasal syndrome type 2 · Naguib-Richieri-Costa syndrome |
| fr | Syndrome d'hypertélorisme-hypospadias-polysyndactylie | Dysostose acrofrontofacionasale type 2 · Syndrome acrofrontofacionasal type 2 · Syndrome de Naguib-Richieri-Costa |
| de | Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom | Akro-fronto-fazio-nasales Syndrom Typ 2 · Dysplasie, akro-fonto-fazio-nasale, Typ 2 · Naguib-Richieri-Costa-Syndrom |
| es | Síndrome hipertelorismo-hipospadias-polisindactilia | Disostosis acrofrontofacionasal tipo 2 · Síndrome acrofrontofacionasal tipo 2 · Síndrome de Naguib-Richieri-Costa |
| it | Sindrome ipertelorismo-ipospadia-polisindattilia | Disostosi acro-fronto-facio-nasale, tipo 2 · Sindrome acro-fronto-facio-nasale, tipo 2 · Sindrome di Naguib-Richieri-Costa |
| nl | Hypertelorisme - hypospadie - polysyndactylie-syndroom | Acrofrontofacionasaal syndroom type 2 · Acrofrontofacionasale dysostose type 2 · Syndroom van Naguib-Richieri-Costa |
| pt | Síndrome de hipertelorismo-hipospadias-polissindactilia | Síndrome Naguib |
| pl | Zespół hiperteloryzmu, spodziectwa i polisyndaktylii | Zespół Naguib, Richieri i Costa · Zespół kończynowo-czołowo-twarzowo-nosowy typu 2 · Dyzostoza kończynowo-czołowo-twarzowo-nosowa typu 2 |
| cs | Syndrom zahrnující hypertelorismus, hypospadii a polysyndaktylii | Akrofrontofacionazální dysostóza, typ 2 · Akrofrontofacionazální syndrom, typ 2 · Naguibův-Richieri-Costův syndrom · Naguib-Richieri-Costův syndrom |
| uk | Синдром гіпертелоризму-гіпоспадії-полісиндактилії | Акрофронтофаціальний дизостоз 2 типу · Акрофронтофаціальний синдром, тип 2 · Синдром Нагіба-Річчієрі-Коста |
| zh | 器官间距过远-尿道下裂-多并指（趾）畸形综合征 | 骨发育不全2型 |
| tr | Hipertelorizm-hipospadias-polisindaktili sendromu | Naguib-Richieri-Costa sendromu · Akrofrontofasiyonazal sendrom tip 2 · Akrofrontofasiyonazal dizostoz tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239710 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | attributed | validated |
| MONDO | 0009402 | E | validated | |
| MeSH | C538332 | E | validated | |
| UMLS | C1855904 | E | validated | |
| GARD | 287 | 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 (3):
- 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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 18553510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18553510[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
35 annotations · validated 2017-07-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000036 | Abnormality of the penis | |
| HP:0000248 | Brachycephaly | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000039 | Epispadias | |
| HP:0006101 | Finger syndactyly | |
| HP:0005469 | Flat occiput | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0000239 | Large fontanelles | |
| HP:0000369 | Low-set ears | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000049 | Shawl scrotum | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0000337 | Broad forehead | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000625 | Eyelid coloboma | |
| HP:0000501 | Glaucoma | |
| HP:0000343 | Long philtrum | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002084 | Encephalocele | |
| HP:0030769 | Exencephaly | |
| HP:0001339 | Lissencephaly | |
| HP:0001302 | Pachygyria | |
| HP:0001302 | Pachygyria | |
| HP:0002126 | Polymicrogyria | |
| HP:0000960 | Sacral dimple | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2211
- This record as JSON: /data/d/2211.json