- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: IEA. (OMIM:256050)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:256050)
- Hitchhiker thumb (HP:0001234): With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. Evidence: PCS. Frequency: 11/11. (PMID:8571951;PMID:15316973)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:8571951)
- Lacunar halos around chondrocytes (HP:0032930): Concentric rings around the chondrocytes. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:8571951)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. (PMID:8571951)
- Dumbbell-shaped femur (HP:0006375): The femur is shortened and displays flaring (widening) of the metaphyses. Evidence: IEA. (OMIM:256050)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: PCS. Frequency: 2/3. (PMID:8571951)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/1. (PMID:15316973)
- Bifid humerus (HP:0003864): Clefting affecting the humerus. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:8571951)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. (PMID:8571951)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:8571951)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:8571951)
- 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: PCS. (PMID:8571951)
- Horizontal sacrum (HP:0003440). Evidence: PCS. (PMID:8571951)
- Short greater sciatic notch (HP:0003185): The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. Evidence: TAS. (OMIM:256050)
- Increased intervertebral space (HP:0030320): An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Evidence: PCS. Frequency: 1/1. (PMID:15316973)
- 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: IEA. (OMIM:256050)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:256050)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. (OMIM:256050)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:8571951)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:256050)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: PCS. (PMID:8571951)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. (PMID:8571951)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. (OMIM:256050)
- 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:8571951)
- Cervical kyphosis (HP:0002947): Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. Evidence: PCS. (PMID:8571951)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: PCS. (PMID:8571951)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: IEA. (OMIM:256050)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:256050)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: IEA. (OMIM:256050)
These phenotypes are associated with the disease atelosteogenesis type II (OMIM:256050).