Phenotypes associated with the disease Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome (ORPHA:163654):
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Abnormal palate morphology (HP:0000174): Any abnormality of the palate, i.e., of roof of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Abnormality of the chin (HP:0000306): An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Broad neck (HP:0000475): Increased side-to-side width of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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:163654)
- Abnormality of the voice (HP:0001608). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Abnormal metatarsal morphology (HP:0001832): Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Curly hair (HP:0002212). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- 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: Frequent (HP:0040282). (ORPHA:163654)
- Cuboid-shaped vertebral bodies (HP:0004634). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Rhizo-meso-acromelic limb shortening (HP:0005069). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Broad long bones (HP:0005622): Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Limited pronation/supination of forearm (HP:0006394): A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Curly eyelashes (HP:0007665): Abnormally curly or curved eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Multiple rows of eyelashes (HP:0008496). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Aplasia/Hypoplasia involving the pelvis (HP:0009103). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Facial hirsutism (HP:0009937): Excess facial hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Narrow philtrum (HP:0011829): Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)
- Enlarged thorax (HP:0100625). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163654)