Caudal appendage-deafness syndrome
historical
Synonyms: Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caudal appendage-deafness syndrome | Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome |
| fr | Syndrome d'appendice caudal-surdité | Syndrome de Lynch-Lee-Murday |
| de | Kaudaler Appendix-Taubheit-Syndrom | Lynch-Lee-Murday-Syndrom |
| es | Síndrome de apéndice caudal-sordera | Síndrome de Lynch-Lee-Murday · Síndrome de apéndice caudal-hipoacusia |
| it | Appendice caudale - sordità | Sindrome di Lynch-Lee-Murday |
| nl | Caudaal aanhangsel - doofheid-syndroom | Caudaal aanhangsel - gehoorverlies-syndroom · Syndroom van Lynch-Lee-Murday |
| pt | Síndrome de apêndice caudal-surdez | Síndrome Lynch-Lee-Murday · Síndrome de apêndice caudal-perda auditiva |
| pl | Przydatek ogonowy - głuchota | Zespół Lyncha, Lee i Murday'a |
| cs | Syndrom zahrnující kaudální přívěsek a hluchotu | Lynchův-Leeův-Murdayův syndrom · Lynch-Lee-Murdayův syndrom |
| uk | Синдром хвостоподібного придатку-глухоти | Синдром каудальної придаткової приглухуватості · Синдром Лінча-Лі-Мердея |
| zh | 尾部附肢-耳聋综合征 | 尾部附肢-听力丧失综合征 |
| tr | Kaudal apendage-sağırlık sendromu | Lynch-Lee-Murday sendromu · Kaudal apendaj-işitme kaybı 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 | 0015233 | E | validated | |
| MeSH | C537713 | E | validated | |
| UMLS | C2931593 | E | validated | |
| GARD | 1163 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7894739[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7894739[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
7 annotations · validated 2019-04-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002825 | Caudal appendage | |
| HP:0000028 | Cryptorchidism | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0004322 | Short stature | |
Annotation source: 7894739[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1123
- This record as JSON: /data/d/1123.json