- Flared metaphysis (HP:0003015, a Human Phenotype Ontology term): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:215045)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. (OMIM:215045)
- Micromelia (HP:0002983, a Human Phenotype Ontology term): The presence of abnormally small extremities. Evidence: TAS. (OMIM:215045)
- Advanced ossification of carpal bones (HP:0004233, a Human Phenotype Ontology term): Ossification of carpal bones at an abnormally early age. Evidence: TAS. (OMIM:215045)
- Antenatal onset (HP:0030674, a Human Phenotype Ontology term): Onset prior to birth. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Squared iliac bones (HP:0003177, a Human Phenotype Ontology term): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: TAS. (OMIM:215045)
- Fetal ascites (HP:0001791, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity during the fetal period. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. (OMIM:215045)
- Preductal coarctation of the aorta (HP:0005151, a Human Phenotype Ontology term): Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Stillbirth (HP:0003826, a Human Phenotype Ontology term): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: PCS. Frequency: 1/1. (PMID:9649554)
- Hydrops fetalis (HP:0001789, a Human Phenotype Ontology term): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:9649554)
- Laryngeal calcification (HP:0008754, a Human Phenotype Ontology term): Calcification (abnormal deposits of calcium) in the laryngeal tissues. Evidence: TAS. (OMIM:215045)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Accelerated skeletal maturation (HP:0005616, a Human Phenotype Ontology term): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. (OMIM:215045)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/2. (PMID:9268097)
- Abnormal vertebral morphology (HP:0003468, a Human Phenotype Ontology term): An abnormality of one or more of the vertebrae. Evidence: PCS. Frequency: 0/3. (PMID:10664159)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. (OMIM:215045)
- Generalized osteosclerosis (HP:0005789, a Human Phenotype Ontology term): An abnormal increase of bone mineral density with generalized involvement of the skeleton. Evidence: TAS. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (OMIM:215045)
- Advanced tarsal ossification (HP:0008108, a Human Phenotype Ontology term): Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: TAS. (OMIM:215045)
These phenotypes are associated with the disease chondrodysplasia Blomstrand type (OMIM:215045, an entry in Online Mendelian Inheritance in Man).