Ulnar hypoplasia-split foot syndrome
historical
Synonyms: Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ulnar hypoplasia-split foot syndrome | Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome |
| fr | Syndrome d'aplasie cubitale-pied fendu | Syndrome de Van den Berghe-Dequeker |
| de | Ulna-Hypoplasie-Spaltfuß-Syndrom | Ulna-Hypoplasie - Krebsscheren-Defektfehlbildung der Füße · Van den Berghe-Dequecker-Syndrom |
| es | Síndrome de hipoplasia cubital-pies hendidos | Hipoplasia cubital-deformidad de los pies en garra de langosta · Síndrome de Van de Berghe-Dequeker |
| it | Ipoplasia ulnare - schisi dei piedi | Ipoplasia ulnare - piedi a "chela di aragosta" · Sindrome di Van den Berghe-Dequecker |
| nl | Hypoplasie van ulna - gespleten voet-syndroom | Ulnaire hypoplasie - kreeftenvoet-syndroom · Syndroom van Van den Berghe-Dequeker |
| pt | Síndrome de hipoplasia cubital-ectrodactilia dos pés | |
| pl | Niedorozwój kości łokciowej - rozszczep stopy | Hipoplazja kości łokciowej - deformacja stóp typu szczypce homara · Zespół Van den Berghe i Dequeckera |
| cs | Syndrom zahrnující ulnární hypoplázii a rozštěpenou nohu | Syndrom zahrnující ulnární hypoplázii a klepetovitou deformitu nohy · Van den Bergheho-Dequeckerův syndrom · Van den Berghe-Dequeckerův syndrom |
| uk | Синдром гіпоплазії ліктьової кістки - розщеплення стопи | Синдром ліктьової гіпоплазії - лобстерно-кігтьової деформації стоп · Синдром Ван ден Берге-Декекера |
| zh | 尺骨发育不全-裂足综合征 | 尺骨发育不良-龙虾爪畸形足综合征 |
| tr | Ulnar hipoplazi-bölünmüş ayak sendromu | Van den Berghe-Dequecker sendromu · Ayak sendromunun ulnar hipoplazisi-ıstakoz-pençe deformitesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314360 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0010750 | E | validated | |
| MeSH | C536936 | E | validated | |
| UMLS | C4518553 | E | validated | |
| GARD | 5400 | 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 (1):
- ORPHA:294957Dysostosis with combined reduction defects of upper and lower limbs
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_565745[PMID] |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 565745[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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0001839 | Split foot | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1122
- This record as JSON: /data/d/1122.json