- Lower limb undergrowth (HP:0009816): Leg shortening because of underdevelopment of one or more bones of the lower extremity. Evidence: IEA. (OMIM:186500)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: IEA. (OMIM:186500)
- 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: PCS. Frequency: 1/5. (PMID:10080184)
- Progressive conductive hearing impairment (HP:0008607): A progressive type of conductive deafness. Evidence: IEA. (OMIM:186500)
- Absent proximal finger flexion creases (HP:0006077): Absence of the proximal interphalangeal flexion creases of the fingers. Evidence: PCS. Frequency: 2/5. (PMID:15770128)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:186500)
- Radial deviation of finger (HP:0009466): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:186500)
- Short sternum (HP:0000879): Decreased inferosuperior length of the sternum. Evidence: IEA. (OMIM:186500)
- Finger symphalangism (HP:0009700): An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. Evidence: TAS. (OMIM:186500)
- Asymmetry of the mouth (HP:0009941): The presence of an asymmetric mouth. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: TAS. (OMIM:186500)
- Hypoplastic nasal septum (HP:0005104): Underdevelopment of the nasal septum. Evidence: IEA. (OMIM:186500)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: IEA. (OMIM:186500)
- Cutaneous finger syndactyly (HP:0010554): A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. Evidence: IEA. (OMIM:186500)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: IEA. (OMIM:186500)
- Short middle phalanx of the 4th finger (HP:0009295): Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Proximal fifth finger symphalangism (HP:0009177): Fusion of the proximal and middle phalanges of the 5th finger. Evidence: PCS. Frequency: 2/5. (PMID:15770128)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. (OMIM:186500)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- 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: IEA. (OMIM:186500)
- Enlargement of the costochondral junction (HP:0000920): Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. Evidence: IEA. (OMIM:186500)
- 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: PCS. Frequency: 1/5. (PMID:15770128)
- 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: PCS. Frequency: 1/5. (PMID:15770128)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: IEA. (OMIM:186500)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:186500)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10080184)
- Clinodactyly of the 4th toe (HP:0011918): Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- 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. (OMIM:186500)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 4/5. (PMID:15770128)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: IEA. (OMIM:186500)
- Stapes ankylosis (HP:0000381): Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). Evidence: IEA. (OMIM:186500)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 2/5. (PMID:15770128)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: IEA. (OMIM:186500)
- Short middle phalanx of the 5th toe (HP:0100394): Developmental hypoplasia of the middle phalanx of the 5th toe. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Aplastic/hypoplastic toenail (HP:0010624): Absence or underdevelopment of the toenail. Evidence: IEA. (OMIM:186500)
- Aplasia of distal finger phalanx (HP:0009881). Evidence: IEA. (OMIM:186500)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 4/5. (PMID:10080184)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: PCS. Frequency: 1/5. (PMID:10080184)
- Bilateral conductive hearing impairment (HP:0008513): A bilateral type of conductive hearing impairment. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Thick upper lip vermilion (HP:0000215): Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). Evidence: IEA. (OMIM:186500)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: IEA. (OMIM:186500)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 3/5. (PMID:15770128)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: IEA. (OMIM:186500)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Proximal 5th toe symphalangism (HP:0100482): Bony fusion at the proximal interphalangeal joint of the fifth (little) toe (end-to-end fusion of the proximal and medial phalanx of the fifth toe). Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Proximal 4th toe symphalangism (HP:0100481): Bony fusion at the proximal interphalangeal joint of the fourth (little) toe (end-to-end fusion of the proximal and medial phalanx of the fourth toe). Evidence: PCS. Frequency: 1/5. (PMID:15770128)
- Hypoplastic spinal processes (HP:0008460). Evidence: IEA. (OMIM:186500)
- 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: PCS. Frequency: 2/5. (PMID:15770128)
- Proximal fourth finger symphalangism (HP:0009477): Fusion of the proximal and middle phalanges of the 4th finger. Evidence: PCS. Frequency: 2/5. (PMID:15770128)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: IEA. (OMIM:186500)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: IEA. (OMIM:186500)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: IEA. (OMIM:186500)
These phenotypes are associated with the disease multiple synostoses syndrome 1 (OMIM:186500).