Clinical Signs and Symptoms
ORPHA:2363 Lacrimoauriculodentodigital syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the dentition HP:0000164
Very frequent
- Abnormal digit morphology HP:0011297
- Abnormal lacrimal duct morphology HP:0011481
- Abnormal lacrimal gland morphology HP:0011482
- Abnormal salivary gland morphology HP:0010286
- Abnormality of dental enamel HP:0000682
- Abnormality of the eye HP:0000478
- Abnormality of the pinna HP:0000377
- Carious teeth HP:0000670
- Epiphora HP:0009926
- Keratoconjunctivitis sicca HP:0001097
- Xerostomia HP:0000217
Frequent
- Abnormal facial shape HP:0001999
- Abnormal thumb morphology HP:0001172
- Absent lacrimal punctum HP:0001092
- Absent thumb HP:0009777
- Clinodactyly HP:0030084
- Conductive hearing impairment HP:0000405
- Corneal neovascularization HP:0011496
- Corneal ulceration HP:0012804
- Cupped ear HP:0000378
- Decreased corneal sensation HP:0012155
- Duplication of thumb phalanx HP:0009942
- Finger syndactyly HP:0006101
- Hypodontia HP:0000668
- Hypoplasia of dental enamel HP:0006297
- Hypoplasia of the lacrimal punctum HP:0007892
- Hypoplasia of the radius HP:0002984
- Keratoconjunctivitis HP:0001096
- Lacrimal duct aplasia HP:0007925
- Lacrimal gland aplasia HP:0007656
- Limbal stem cell deficiency HP:0032107
- Low-set ears HP:0000369
- Microdontia HP:0000691
- Mixed hearing impairment HP:0000410
- Ptosis HP:0000508
- Recurrent corneal erosions HP:0000495
- Sensorineural hearing impairment HP:0000407
- Short thumb HP:0009778
- Syndactyly HP:0001159
- Toe syndactyly HP:0001770
Occasional
- Anosmia HP:0000458
- Arthritis HP:0001369
- Bicornuate uterus HP:0000813
- Bifid uvula HP:0000193
- Choanal atresia HP:0000453
- Cryptorchidism HP:0000028
- Dysphagia HP:0002015
- Exotropia HP:0000577
- Global developmental delay HP:0001263
- Hydronephrosis HP:0000126
- Hypoplasia of the epiglottis HP:0005349
- Increased corneal thickness HP:0011487
- Micrognathia HP:0000347
- Microtia HP:0008551
- Nail dysplasia HP:0002164
- Open angle glaucoma HP:0012108
- Oral cleft HP:0000202
- Patent ductus arteriosus HP:0001643
- Renal hypoplasia HP:0000089
- Scoliosis HP:0002650
- Seizures HP:0001250
- Vesicoureteral reflux HP:0000076
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.