Phenotypes associated with the disease Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630):
- Inclusion body fibromatosis (HP:0025197): A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:88630)
- Hyperpigmented papule (HP:0025473): A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:88630)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88630)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88630)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88630)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88630)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:88630)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Depressed nasal tip (HP:0000437): Decreased distance from the nasal tip to the nasal base. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Osteolysis involving bones of the lower limbs (HP:0009139). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Osteolysis involving bones of the upper limbs (HP:0045039). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:88630)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:88630)
- Restrictive cardiomyopathy (HP:0001723): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:88630)