- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- 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: Very frequent (HP:0040281). (ORPHA:457395)
- 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: Very frequent (HP:0040281). (ORPHA:457395)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- 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: Very frequent (HP:0040281). (ORPHA:457395)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- 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: Very frequent (HP:0040281). (ORPHA:457395)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- 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: Very frequent (HP:0040281). (ORPHA:457395)
- Short fourth metatarsal (HP:0004689): Short fourth metatarsal bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457395)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Abnormal sternum morphology (HP:0000766): An anomaly of the sternum, also known as the breastbone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Thoracolumbar scoliosis (HP:0002944). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Distal femoral bowing (HP:0005096): A bending or abnormal curvature of the distal portion of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Hyperextensible hand joints (HP:0005639): The ability of the joints of the hand to move beyond their normal range of motion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Proximal femoral epiphysiolysis (HP:0006461): Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Severe expressive language delay (HP:0006863): A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Prominent calcaneus (HP:0012428): Protruding heel bone, or calcaneus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Tibial metaphyseal irregularity (HP:0030292): Irregularity of the normally smooth surface of a metaphysis of a tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Fibular metaphyseal irregularity (HP:0030293): Irregularity of the normally smooth surface of a metaphysis of a fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Increased size of nasopharyngeal adenoids (HP:0040261): An abnormal increase in the size of nasopharyngeal adenoids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457395)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- 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: Occasional (HP:0040283). (ORPHA:457395)
- 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:457395)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Toe clinodactyly (HP:0001863): Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Small foramen magnum (HP:0002677): An abnormal narrowing of the foramen magnum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Thoracic platyspondyly (HP:0004592): A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Flattened femoral head (HP:0008812): An abnormally flattened femoral head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
- Ossifying fibroma of the jaw (HP:0030427): A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457395)
These phenotypes are associated with the disease Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395).