- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: PCS. Frequency: 4/4. (PMID:30032985)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- 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: PCS. Frequency: 3/4. (PMID:30032985)
- Mallet finger (HP:0030771): Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- 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: PCS. Frequency: 1/4. (PMID:30032985)
- Long toe (HP:0010511): Toes that appear disproportionately long compared to the foot. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Long thumb (HP:0032524): Length of the thumb is greater than normal. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Pseudoepiphyses of the middle phalanges of the hand (HP:0010264): A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. Evidence: PCS. Frequency: 4/4. (PMID:30032985)
- Pseudoepiphyses of the proximal phalanges of the hand (HP:0010275): A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. Evidence: PCS. Frequency: 4/4. (PMID:30032985)
- Pseudoepiphysis of the 1st metacarpal (HP:0010022): The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. Evidence: PCS. Frequency: 4/4. (PMID:30032985)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 2/4. (PMID:30032985)
- 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: PCS. Frequency: 1/4. (PMID:30032985)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:30032985)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: PCS. Frequency: 2/4. (PMID:30032985)
- Long hallux (HP:0001847): Increased length of the big toe. Evidence: PCS. Frequency: 2/4. (PMID:30032985)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 1/4. (PMID:30032985)
These phenotypes are associated with the disease Boudin-Mortier syndrome (OMIM:619543).