Lacrimoauriculodentodigital syndrome
Synonyms: LADD syndrome · LARD syndrome · Lacrimoauriculoradiodental syndrome · Levy-Hollister syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lacrimoauriculodentodigital syndrome | LADD syndrome · LARD syndrome · Lacrimoauriculoradiodental syndrome · Levy-Hollister syndrome |
| fr | Syndrome lacrymo-auriculo-dento-digital | Syndrome LADD · Syndrome LARD · Syndrome de Levy-Hollister · Syndrome lacrymo-auriculo-radio-dental |
| de | Lakrimo-aurikulo-dento-digitales Syndrom | LADD-Syndrom · LARD-Syndrom · Lakrimo-aurikulo-radio-dentales Syndrom · Levy-Hollister-Syndrom |
| es | Síndrome lácrimo-aurículo-dento-digital | Síndrome LADD · Síndrome LARD · Síndrome de Levy Hollister · Síndrome lácrimo-aurículo-radio-dental |
| it | Sindrome lacrimo-auriculo-dento-digitale | Sindrome di Levy-Hollister · Sindrome lacrimo-auriculo-radio-dentale · Sindrome LADD · Sindrome LARD |
| nl | Lacrimo-auriculo-dento-digitaal syndroom | LADD-syndroom · LARD-syndroom · Lacrimo-auriculo-radio-dentaal syndroom · Levy-Hollistersyndroom |
| pt | Síndrome lacrimo-auriculo-dento-digital | Síndrome LADD · Síndrome LARD · Síndrome Levy-Hollister |
| pl | Zespół łzowo-uszno-zębowo-palcowy | Zespół LADD · Zespół LARD · Zespół Levy'ego i Hollistera · Zespół łzowo-uszno-promieniowo-zębowy |
| cs | Lakrimoaurikulodentodigitální syndrom | LADD syndrom · LARD syndrom · Lakrimoaurikuloradiodentální syndrom · Levyho-Hollisterův syndrom · Levy-Hollisterův syndrom |
| uk | Лакримоаурикулодентодигітальний синдром | Лакримоаурикулорадіодентальний синдром · Синдром LADD · LARD-синдром · Синдром Леві-Голлістера |
| zh | 泪管-耳-齿-指综合征 | 泪管-耳-齿-指综合征 |
| tr | Lacrimoauriculodentodigital sendromu | LADD sendromu · LARD sendromu · Levy-Hollister sendromu · Lakrimoaurikuloradiyodental sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 149730 | BTNT | validated | |
| OMIM | 620192 | BTNT | validated | |
| OMIM | 620193 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007872 | E | validated | |
| MeSH | C538132 | E | validated | |
| UMLS | C0265269 | E | validated | |
| GARD | 6848 | E | validated | |
| MedDRA | 10085252 | 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 (8):
- ORPHA:98609EEC syndrome and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF10 | Disease-causing germline mutation(s) in | Assessed | HGNC:3666 | ENSG00000070193 | 602115 | 5p12 | fibroblast growth factor 10 | 16630169[PMID] |
| FGFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 16501574[PMID] |
| FGFR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 16501574[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 23010692[PMID]_Pr MANOUVRIER-HANU Sylvie[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23010692[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
63 annotations · validated 2021-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| Frequent (79-30%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0011481 | Abnormal lacrimal duct morphology | |
| HP:0011482 | Abnormal lacrimal gland morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000670 | Carious teeth | |
| HP:0009926 | Epiphora | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001092 | Absent lacrimal punctum | |
| HP:0009777 | Absent thumb | |
| HP:0030084 | Clinodactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0011496 | Corneal neovascularization | |
| HP:0012804 | Corneal ulceration | |
| HP:0000378 | Cupped ear | |
| HP:0012155 | Decreased corneal sensation | |
| HP:0009942 | Duplication of thumb phalanx | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0006101 | Finger syndactyly | |
| HP:0000668 | Hypodontia | |
| HP:0007892 | Hypoplasia of the lacrimal punctum | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0001096 | Keratoconjunctivitis | |
| HP:0007925 | Lacrimal duct aplasia | |
| HP:0007656 | Lacrimal gland aplasia | |
| HP:0032107 | Limbal stem cell deficiency | |
| HP:0000369 | Low-set ears | |
| HP:0000691 | Microdontia | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0000508 | Ptosis | |
| HP:0000495 | Recurrent corneal erosions | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0009778 | Short thumb | |
| HP:0001159 | Syndactyly | |
| HP:0001770 | Toe syndactyly | |
| Very rare (<4-1%) | ||
| HP:0000458 | Anosmia | |
| HP:0001369 | Arthritis | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000193 | Bifid uvula | |
| HP:0000453 | Choanal atresia | |
| HP:0000028 | Cryptorchidism | |
| HP:0002015 | Dysphagia | |
| HP:0000577 | Exotropia | |
| HP:0001263 | Global developmental delay | |
| HP:0000126 | Hydronephrosis | |
| HP:0005349 | Hypoplasia of the epiglottis | |
| HP:0011487 | Increased corneal thickness | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0002164 | Nail dysplasia | |
| HP:0012108 | Open angle glaucoma | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000089 | Renal hypoplasia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32715658[PMID]_28483234[PMID]_28400699[PMID]_28043400[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2363
- This record as JSON: /data/d/2363.json