- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- 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:2097)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Abnormal cortical bone morphology (HP:0003103): An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
- Abnormal palate morphology (HP:0000174): Any abnormality of the palate, i.e., of roof of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Skin dimple over apex of long bone angulation (HP:0001024). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- 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:2097)
- 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:2097)
- Open bite (HP:0010807): Visible space between the dental arches in occlusion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Abnormality of the glenoid fossa (HP:0011912): An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Large face (HP:0100729). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2097)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2097)
These phenotypes are associated with the disease Grant syndrome (ORPHA:2097).