Cleft lip/palate-deafness-sacral lipoma syndrome
Synonyms: Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft lip/palate-deafness-sacral lipoma syndrome | Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome |
| fr | Syndrome de fente labiopalatine-surdité-lipome sacré | Syndrome de Lowry-Yong |
| de | Lippen-Kiefer-Gaumenspalte - Schwerhörigkeit - Sakrallipom | Lowry-Yong-Syndrom |
| es | Síndrome de fisura labiopalatina-sordera-lipoma sacro | Síndrome de Lowry-Yong · Síndrome de fisura labiopalatina-hipoacusia-lipoma sacro |
| it | Labiopalatoschisi - sordità - lipoma sacrale | Sindrome di Lowry-Yong |
| nl | Gespleten lip/gehemelte - doofheid - sacraal lipoom-syndroom | Gespleten lip/gehemelte - gehoorverlies - sacraal lipoom-syndroom · Syndroom van Lowry-Yong |
| pt | Síndrome de fenda lábio-palatina-surdez-lipoma sagrado | Síndrome Lowry-Yong |
| pl | Rozszczep wargi/podniebienia - głuchota - tłuszczak kości krzyżowej | Zespół Lowry'ego i Yonga |
| cs | Syndrom zahrnující rozštěp rtu/patra, hluchotu a sakrální lipom | Lowryho-Yongův syndrom · Lowry-Yongův syndrom |
| uk | Синдром розщілини губи/піднебіння-глухоти-сакральної ліпоми | Синдром розщілини губи/піднебіння - втрата слуху - сакральна ліпома · Синдром Лоурі-Йонга |
| zh | 唇/腭裂-耳聋-骶脂肪瘤综合征 | 唇/腭裂-耳聋-骶脂肪瘤综合征 |
| tr | Yarık dudak / damak-sağırlık-sakral lipom sendromu | Lowry-Yong sendromu · Yarık dudak / damak-işitme kaybı-sakral lipom sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0016059 | E | validated | |
| UMLS | C4274888 | 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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_2002486[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2002486[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005273 | Absent nasal septal cartilage | |
| HP:0001251 | Ataxia | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000324 | Facial asymmetry | |
| HP:0002827 | Hip dislocation | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002435 | Meningocele | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0012033 | Sacral lipoma | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| HP:0002209 | Sparse scalp hair | |
| HP:0009804 | Tooth agenesis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2003
- This record as JSON: /data/d/2003.json