- Hypoplastic scapulae (HP:0000882, a Human Phenotype Ontology term): Underdeveloped scapula. Evidence: TAS. (OMIM:269250)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:269250)
- Thoracic hypoplasia (HP:0005257, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:17952091)
- Short nose (HP:0003196, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/2. (PMID:17952091)
- Nonimmune hydrops fetalis (HP:0001790, a Human Phenotype Ontology term): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 2/2. (PMID:17952091)
- Snail-like ilia (HP:0031026, a Human Phenotype Ontology term): The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. Evidence: PCS. Frequency: 2/2. (PMID:17952091)
- Narrow vertebral interpedicular distance (HP:0008450, a Human Phenotype Ontology term): A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. Evidence: PCS. Frequency: 1/1. (PMID:17952091)
- Fetal onset (HP:0011461, a Human Phenotype Ontology term): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 2/2. (PMID:17952091)
- Disproportionate short-limb short stature (HP:0008873, a Human Phenotype Ontology term): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: TAS. (OMIM:269250)
- Stillbirth (HP:0003826, a Human Phenotype Ontology term): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. (OMIM:269250)
- Lateral clavicle hook (HP:0000895, a Human Phenotype Ontology term): An excessive upward convexity of the lateral clavicle. Evidence: PCS. Frequency: 20/20. (OMIM:269250;PMID:27666822)
- 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:17952091)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. (OMIM:269250)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: TAS. (OMIM:269250)
- Short long bone (HP:0003026, a Human Phenotype Ontology term): One or more abnormally short long bone. Evidence: PCS. Frequency: 2/2. (PMID:17952091)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: TAS. (OMIM:269250)
- Limb undergrowth (HP:0009826, a Human Phenotype Ontology term): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: PCS. Frequency: 2/2. (PMID:17952091)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. (OMIM:269250)
- Metaphyseal irregularity (HP:0003025, a Human Phenotype Ontology term): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:269250)
- Ovoid vertebral bodies (HP:0003300, a Human Phenotype Ontology term): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: PCS. Frequency: 1/1. (PMID:17952091)
- Advanced ossification of carpal bones (HP:0004233, a Human Phenotype Ontology term): Ossification of carpal bones at an abnormally early age. Evidence: IEA. (OMIM:269250)
- 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:269250)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: TAS. (OMIM:269250)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/1. (PMID:17952091)
- Flat acetabular roof (HP:0003180, a Human Phenotype Ontology term): 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. Frequency: 1/1. (PMID:17952091)
- Anterior rib cupping (HP:0000907, a Human Phenotype Ontology term): Wide, concave anterior rib end. Evidence: TAS. (OMIM:269250)
- Dumbbell-shaped long bone (HP:0000947, a Human Phenotype Ontology term): An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. Evidence: IEA. (OMIM:269250)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 1/1. (PMID:17952091)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 1/1. (PMID:17952091)
- 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:17952091)
- Protuberant abdomen (HP:0001538, a Human Phenotype Ontology term): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:17952091)
- 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: IEA. (OMIM:269250)
- Bilateral talipes equinovarus (HP:0001776, a Human Phenotype Ontology term): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/2. (PMID:17952091)
These phenotypes are associated with the disease schneckenbecken dysplasia (OMIM:269250, an entry in Online Mendelian Inheritance in Man).