Phenotypes associated with the disease lacrimoauriculodentodigital syndrome 3 (OMIM:620193):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:16501574;PMID:16630169)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 4/4. (PMID:16501574)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: PCS. Frequency: 8/9. (PMID:16501574;PMID:16630169)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/3. (PMID:16630169)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Absent lacrimal punctum (HP:0001092): No identifiable superior and/or inferior lacrimal punctum. Evidence: PCS. Frequency: 7/7. (PMID:16501574;PMID:16630169)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Partial duplication of thumb phalanx (HP:0009944): A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. Evidence: PCS. Frequency: 4/4. (PMID:16501574)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 4/7. (PMID:16501574;PMID:16630169)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:16501574)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 1/2. (PMID:16630169)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 4/4. (PMID:16501574)