- Abnormal mandible morphology (HP:0000277): Any abnormality of the mandible, the bone of the lower jaw. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- 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: Very frequent (HP:0040281). (ORPHA:2215)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Prominent metopic ridge (HP:0005487): Vertical bony ridge positioned in the midline of the forehead. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Congenital muscular torticollis (HP:0005988): A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Ulnar deviation of finger (HP:0009465): Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2215)
- 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:2215)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- 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:2215)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Malignant hyperthermia (HP:0002047): Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Amniotic constriction ring (HP:0009775): Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Long palm (HP:0011302): For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Prominence of the zygomatic bone (HP:0012370): Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Abnormal circulating aldolase concentration (HP:0012400): An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Abnormal circulating creatine kinase activity (HP:0040081): Any deviation from the normal activity of creatine kinase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Abnormal circulating lactate dehydrogenase concentration (HP:0045040): A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2215)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Broad alveolar ridges (HP:0000187). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Sloping forehead (HP:0000340): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- 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: Occasional (HP:0040283). (ORPHA:2215)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- 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: Occasional (HP:0040283). (ORPHA:2215)
- Prenatal movement abnormality (HP:0001557): An abnormality of fetal movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Hyperconvex fingernails (HP:0001812): When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Exaggerated cupid's bow (HP:0002263): More pronounced paramedian peaks and median notch of the Cupid's bow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Capillary hemangioma (HP:0005306): The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Advanced eruption of teeth (HP:0006288): Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Ridged fingernail (HP:0008402): Longitudinal, linear prominences in the fingernail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Naevus flammeus of the eyelid (HP:0010733): Naevus flammeus localized in the skin of the eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Onychogryphosis of fingernail (HP:0040036): Thickened fingernails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Hemiatrophy (HP:0100556): Undergrowth of the limbs that affects only one side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
- Fingernail dysplasia (HP:0100798): An abnormality of the development of the fingernails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2215)
These phenotypes are associated with the disease Multiple pterygium-malignant hyperthermia syndrome (ORPHA:2215).