- 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. (PMID:28306229)
- Congenital hip dislocation (HP:0001374). Evidence: IEA. Frequency: Very rare (HP:0040284). (PMID:20847697)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:130010)
- Recurrent joint dislocation (HP:0031869): Dislocation of a given joint repeated times. Evidence: PCS. Frequency: 3/4. (PMID:11377605)
- Generalized joint hypermobility (HP:0002761): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: IEA. (OMIM:130010)
- Fragile skin (HP:0001030): Skin that splits easily with minimal injury. Evidence: PCS. (PMID:28306229)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 14/14. (PMID:11377605;PMID:28306229)
- Cigarette-paper scars (HP:0001073): Thin (atrophic) and wide scars. Evidence: PCS. (PMID:28306229)
- Subcutaneous spheroids (HP:0025014): Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. Evidence: PCS. Frequency: 12/14. (PMID:11377605;PMID:28306229)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 4/4. (PMID:11377605)
- Hernia (HP:0100790). Evidence: PCS. (PMID:28306229)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 2/6. (PMID:4023980)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. (PMID:28306229)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: IEA. Frequency: 4/4. (PMID:11377605)
- Soft, doughy skin (HP:0001027): A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. Evidence: PCS. (PMID:28306229)
- Molluscoid pseudotumors (HP:0000993): Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. Evidence: PCS. Frequency: 12/14. (PMID:11377605;PMID:28306229)
- 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:9783710)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. (PMID:28306229)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: PCS. Frequency: 2/6. (PMID:4023980)
These phenotypes are associated with the disease Ehlers-Danlos syndrome, classic type, 2 (OMIM:130010).