Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Synonyms: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome · Hyaluronidase 2 deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome · Hyaluronidase 2 deficiency |
| fr | Syndrome de fente labiopalatine-dysmorphie craniofaciale-cardiopathie congénitale-surdité | Déficit en hyaluronidase 2 |
| de | Lippen-Gaumenspalte-kraniofaziale Dysmorphie-kongenitaler Herzfehler-Hörverlust-Syndrom | Hyaluronidase 2-Defizienz · Hyaluronidase 2-Mangel |
| es | Síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-hipoacusia | Deficiencia de hialuronidasa 2 · Síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-sordera |
| it | Sindrome labioschisi e palatoschisi-dismorfismi craniofacciali-cardiopatie congenite-sordità | Deficit di ialuronidasi 2 |
| nl | Gespleten lip en verhemelte - craniofaciale dysmorfie - congenitaal hartdefect - gehoorverlies-syndroom | Hyaluronidase 2-deficiëntie |
| pt | Síndrome de fenda lábio-palatina-dismorfia craniofacial-cardiopatia congénita-perda auditiva | |
| pl | Zespół rozszczep wargi i podniebienia-dysmorfia twarzoczaszki-wrodzona wada serca- głuchota | Niedobór hialuronidazy 2 |
| cs | Syndrom zahrnující rozštěp rtu a patra, kraniofaciální dysmorfismus, vrozenou srdeční vadu a ztrátu sluchu | Deficit hyaluronidázy 2 |
| uk | Синдром розщілини губи та піднебіння-черепно-лицьового дизморфізму- вродженої вади серця-втрати слуху | Синдром розщілини губи та піднебіння - черепно-лицьового дизморфізму - вродженої вади серця - глухоти · Дефіцит гіалуронідази 2 |
| zh | 唇腭裂-颅面畸形-先天性心脏病-听力丧失综合症 | 透明质酸酶2缺乏症 |
| tr | Yarık dudak ve damak-kraniofasiyal dismorfizm-doğumsal kalp defekti-işitme kaybı sendromu | Yarık dudak ve damak-kraniyofasiyal dismorfizm-doğumsal kalp defekti-sağırlık sendromu · Hyaluronidaz 2 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621063 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD25.Y | NTBT | attributed | validated |
| MONDO | 0034820 | E | validated | |
| UMLS | C5568767 | 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 (5):
- 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HYAL2 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:5321 | ENSG00000068001 | 603551 | 3p21.31 | hyaluronidase 2 | 28081210[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 28081210[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28081210[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508476
- This record as JSON: /data/d/508476.json