- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. (OMIM:610797)
- 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. (OMIM:610797)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: IEA. (OMIM:610797)
- Carpal bone aplasia (HP:0004231): Congenital absence of a carpal bone. Evidence: IEA. (OMIM:610797)
- Aplasia of metacarpal bones (HP:0010048): Developmental defect associated with absence of one or more metacarpal bones. Evidence: TAS. (OMIM:610797)
- Absent metacarpal epiphyses (HP:0009196): Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. Evidence: IEA. (OMIM:610797)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:610797)
- 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: IEA. (OMIM:610797)
- 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: TAS. (OMIM:610797)
- 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: TAS. (OMIM:610797)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (OMIM:610797)
- 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: IEA. (OMIM:610797)
- Epiphyseal dysplasia (HP:0002656). Evidence: TAS. (OMIM:610797)
- 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: IEA. (OMIM:610797)
- Hypoplasia of the femoral head (HP:0008802): Underdevelopment of the femoral head. Evidence: IEA. (OMIM:610797)
- Marked delay in bone age (HP:0003799). Evidence: IEA. (OMIM:610797)
These phenotypes are associated with the disease epiphyseal dysplasia, Baumann type (OMIM:610797).