- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- 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: Obligate (HP:0040280). (ORPHA:93333)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Abnormality of the joint spaces of the elbow (HP:0003943). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- Mesomelic leg shortening (HP:0004987): Shortening of the middle parts of the leg in relation to the upper and terminal segments. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93333)
- 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: Very frequent (HP:0040281). (ORPHA:93333)
- Abnormal skull base morphology (HP:0002693): An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93333)
- 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:93333)
- 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: Frequent (HP:0040282). (ORPHA:93333)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
- 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: Frequent (HP:0040282). (ORPHA:93333)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
- 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:93333)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
- Redundant neck skin (HP:0005989): Excess skin around the neck, often lying in horizontal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93333)
These phenotypes are associated with the disease Pelviscapular dysplasia (ORPHA:93333).