Phenotypes associated with the disease spondyloepiphyseal dysplasia, Cantu type (OMIM:611717):
- Delayed epiphyseal ossification (HP:0002663). Evidence: IEA. (OMIM:611717)
- Tapered metacarpals (HP:0006108): Metacarpal that becomes thinner toward the distal end. Evidence: TAS. (OMIM:611717)
- 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: IEA. (OMIM:611717)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:611717)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: IEA. (OMIM:611717)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: IEA. (OMIM:611717)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: IEA. (OMIM:611717)
- Thoracic hypoplasia (HP:0005257). Evidence: IEA. (OMIM:611717)
- 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. (OMIM:611717)
- 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: PCS. (OMIM:611717)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:611717)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. (OMIM:611717)
- Anterior scalloping of vertebral bodies (HP:0004580): An excessive concavity of the anterior surface of one or more vertebral bodies. Evidence: TAS. (OMIM:611717)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:611717)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. (OMIM:611717)
- Tapered phalanx of finger (HP:0006192): Phalanges of the fingers becoming thinner toward the distal end. Evidence: TAS. (OMIM:611717)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. (OMIM:611717)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: IEA. (OMIM:611717)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: IEA. (OMIM:611717)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: IEA. (OMIM:611717)
- Curly eyelashes (HP:0007665): Abnormally curly or curved eyelashes. Evidence: IEA. (OMIM:611717)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: IEA. (OMIM:611717)
- Thick lower lip vermilion (HP:0000179): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: TAS. (OMIM:611717)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: IEA. (OMIM:611717)
- Single interphalangeal crease of fifth finger (HP:0006216): Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. Evidence: IEA. (OMIM:611717)
- 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: TAS. (OMIM:611717)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. (OMIM:611717)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: IEA. (OMIM:611717)
- Cuboid-shaped vertebral bodies (HP:0004634). Evidence: IEA. (OMIM:611717)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: IEA. (OMIM:611717)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: IEA. (OMIM:611717)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:611717)
- Short palm (HP:0004279): Short palm. Evidence: IEA. (OMIM:611717)
- Broad neck (HP:0000475): Increased side-to-side width of the neck. Evidence: TAS. (OMIM:611717)
- Rhizo-meso-acromelic limb shortening (HP:0005069). Evidence: IEA. (OMIM:611717)
- 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:611717)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:611717)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. (OMIM:611717)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:611717)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: IEA. (OMIM:611717)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. (OMIM:611717)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: IEA. (OMIM:611717)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: IEA. (OMIM:611717)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: IEA. (OMIM:611717)
- 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: IEA. (OMIM:611717)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. (OMIM:611717)