Phenotypes associated with the disease focal facial dermal dysplasia type III (OMIM:227260):
- 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: 8/13. (PMID:21931173)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 2/3. (PMID:2596524)
- Aged leonine appearance (HP:0008509). Evidence: PCS. (PMID:21931173)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 16/19. (PMID:21931173)
- Bitemporal forceps marks (HP:0011336): Bilateral temporal scarlike defects, which are said to resemble forceps marks. Evidence: PCS. Frequency: 23/23. Onset: Congenital onset (HP:0003577). (PMID:21931173)
- Chin with horizontal crease (HP:0011823): Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. Evidence: PCS. Frequency: 5/12. (PMID:21931173)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 18/21. (PMID:21931173)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. (PMID:21931173)
- Periorbital fullness (HP:0000629): Increase in periorbital soft tissue. Evidence: PCS. Frequency: 23/23. (PMID:21931173)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21931173)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 17/19. (PMID:21931173)
- Distichiasis (HP:0009743): Double rows of eyelashes. Evidence: PCS. Frequency: 19/21. (PMID:21931173)
- Thick upper lip vermilion (HP:0000215): Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 21/23. (PMID:21931173)
- Absent lower eyelashes (HP:0007646): Lack of eyelashes on the lower lid. Evidence: PCS. (PMID:2596524)