- Long foot (HP:0001833): Increased back to front length of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- 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:2460)
- Slender metacarpals (HP:0006236): Decreased width of the metacarpal bones (that is, reduced diameter). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Elbow contracture (HP:0034391): A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Joint contracture (HP:0034392): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- 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: Occasional (HP:0040283). (ORPHA:2460)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Sclerocornea (HP:0000647): A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- 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: Occasional (HP:0040283). (ORPHA:2460)
- 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: Occasional (HP:0040283). (ORPHA:2460)
- Deviated nasal septum (HP:0004411): Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Glenoid fossa hypoplasia (HP:0006633): Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Abnormal aryepiglottic fold morphology (HP:0008744): An abnormality of the aryepiglottic fold. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Abnormal columella morphology (HP:0009929): A structural abnormality of the columella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Knee contracture (HP:0034671): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2460)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2460)
- 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:2460)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2460)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2460)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2460)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Narrow nose (HP:0000460): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- 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:2460)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Lateral clavicle hook (HP:0000895): An excessive upward convexity of the lateral clavicle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2460)
These phenotypes are associated with the disease Van den Ende-Gupta syndrome (ORPHA:2460).