Phenotypes associated with the disease terminal osseous dysplasia-pigmentary defects syndrome (OMIM:300244):
- 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: 3/5. (PMID:20598277)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 2/4. (PMID:20598277)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 5/6. (PMID:20598277)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: IEA. (OMIM:300244)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: IEA. (OMIM:300244)
- Mesomelic arm shortening (HP:0005011): Shortening of the middle parts of the arm in relation to the upper and terminal segments. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:300244)
- Localized skin lesion (HP:0011355): A lesion of the skin that is located in a specific region rather than being generalized. Evidence: IEA. (OMIM:300244)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: PCS. Frequency: 2/3. (PMID:20598277)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: IEA. (OMIM:300244)
- Depressed nasal tip (HP:0000437): Decreased distance from the nasal tip to the nasal base. Evidence: PCS. Frequency: 2/6. (PMID:20598277)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 4/6. (PMID:20598277)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 1/7. (PMID:20598277)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 4/5. (PMID:20598277)
- Toe clinodactyly (HP:0001863): Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). Evidence: IEA. (OMIM:300244)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:20598277)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: IEA. (OMIM:300244)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/8. (PMID:20598277)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:300244)
- Abnormal foot bone ossification (HP:0010675): An abnormality of the formation and mineralization of any bone of the skeleton of foot. Evidence: IEA. (OMIM:300244)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: PCS. Frequency: 2/3. (PMID:20598277)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: IEA. (OMIM:300244)
- Abnormal hand bone ossification (HP:0010660): An abnormality of the formation and mineralization of any bone of the skeleton of hand. Evidence: IEA. (OMIM:300244)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 4/6. (PMID:20598277)
- Multiple joint contractures (HP:0002828). Evidence: IEA. (OMIM:300244)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:300244)
- Camptodactyly of toe (HP:0001836): Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. Evidence: IEA. (OMIM:300244)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. Frequency: 3/9. (OMIM:300244)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:300244)
- Mesomelic leg shortening (HP:0004987): Shortening of the middle parts of the leg in relation to the upper and terminal segments. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:300244)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: IEA. (OMIM:300244)