- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: IEA. (OMIM:602875)
- Redundant skin on fingers (HP:0007516): Loose and sagging skin of the fingers. Evidence: IEA. (OMIM:602875)
- Broad phalanx (HP:0006009): Increased side-to-side width of one or more phalanges of the fingers or toes. Evidence: TAS. (OMIM:602875)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: IEA. (OMIM:602875)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: IEA. (OMIM:602875)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: TAS. (OMIM:602875)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. (OMIM:602875)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: TAS. (OMIM:602875)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: IEA. (OMIM:602875)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. (OMIM:602875)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:602875)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: PCS. Frequency: 9/9. (PMID:25959430)
- Long hallux (HP:0001847): Increased length of the big toe. Evidence: IEA. (OMIM:602875)
- Broad finger (HP:0001500): Increased width of a non-thumb digit of the hand. Evidence: IEA. (OMIM:602875)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: 20/20. (OMIM:602875)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/9. (PMID:25959430)
- Lower thoracic kyphosis (HP:0004633): Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. Evidence: IEA. (OMIM:602875)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: IEA. (OMIM:602875)
- Broad metatarsal (HP:0001783): Increased side-to-side width of a metatarsal bone. Evidence: TAS. (OMIM:602875)
- 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: IEA. (OMIM:602875)
- Acromesomelia (HP:0003086): Small hands and feet. Evidence: PCS. Frequency: 9/9. (PMID:25959430)
- Thoracolumbar interpediculate narrowness (HP:0008484): A reduction of the distance between thoracolumbar vertebral pedicles. Evidence: IEA. (OMIM:602875)
- 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: IEA. (OMIM:602875)
- Thoracolumbar kyphosis (HP:0005619): Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. Evidence: IEA. (OMIM:602875)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:602875)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: IEA. (OMIM:602875)
- Short nail (HP:0001799): Decreased length of nail. Evidence: IEA. (OMIM:602875)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. (OMIM:602875)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: IEA. (OMIM:602875)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: 20/20. (OMIM:602875)
These phenotypes are associated with the disease acromesomelic dysplasia 1, Maroteaux type (OMIM:602875).