- 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:187600)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Severe platyspondyly (HP:0004565, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:187600)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Femoral bowing (HP:0002980, a Human Phenotype Ontology term): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Thoracic hypoplasia (HP:0005257, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Profound intellectual disability (HP:0002187, a Human Phenotype Ontology term): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: TAS. (OMIM:187600)
- Lethal short-limbed short stature (HP:0008909, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:187600)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. (OMIM:187600)
- Gray matter heterotopia (HP:0002282, a Human Phenotype Ontology term): Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Evidence: IEA. (OMIM:187600)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Temporal lobe dysplasia (HP:0034222, a Human Phenotype Ontology term): A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations. Evidence: PCS. Frequency: 6/20. (PMID:24585534)
- Wide-cupped costochondral junctions (HP:0000910, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:187600)
- 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: PCS. Frequency: 1/1. (PMID:21253318)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:187600)
- 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. (PMID:21253318)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: IEA. (OMIM:187600)
- 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: PCS. Frequency: 1/1. (PMID:21253318)
- Cloverleaf skull (HP:0002676, a Human Phenotype Ontology term): Trilobar skull configuration when viewed from the front or behind. Evidence: IEA. (OMIM:187600)
- Breech presentation (HP:0001623, a Human Phenotype Ontology term): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Small foramen magnum (HP:0002677, a Human Phenotype Ontology term): An abnormal narrowing of the foramen magnum. Evidence: IEA. (OMIM:187600)
- Short long bone (HP:0003026, a Human Phenotype Ontology term): One or more abnormally short long bone. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Small face (HP:0000274, a Human Phenotype Ontology term): A face that is short and narrow. Evidence: IEA. (OMIM:187600)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Hypoplastic pelvis (HP:0008839, a Human Phenotype Ontology term): Underdevelopment of the bony pelvis. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Metaphyseal irregularity (HP:0003025, a Human Phenotype Ontology term): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. (OMIM:187600)
- Short greater sciatic notch (HP:0003185, a Human Phenotype Ontology term): 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: IEA. (OMIM:187600)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:187600)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- 1-minute APGAR score of 1 (HP:0030928, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- 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:21253318)
- Champagne cork sign (HP:0034226, a Human Phenotype Ontology term): Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- 5-minute APGAR score of 1 (HP:0030921, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Hypoplastic ilia (HP:0000946, a Human Phenotype Ontology term): Underdevelopment of the ilium. Evidence: IEA. (OMIM:187600)
- 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:21253318)
- Small abnormally formed scapulae (HP:0006584, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:187600)
- Decreased fetal movement (HP:0001558, a Human Phenotype Ontology term): An abnormal reduction in quantity or strength of fetal movements. Evidence: IEA. (OMIM:187600)
- Bowing of the long bones (HP:0006487, a Human Phenotype Ontology term): A bending or abnormal curvature of a long bone. Evidence: TAS. (OMIM:187600)
- Protuberant abdomen (HP:0001538, a Human Phenotype Ontology term): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Neonatal death (HP:0003811, a Human Phenotype Ontology term): Death within the first 28 days of life. Evidence: IEA. (OMIM:187600)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:187600)
- Neonatal respiratory distress (HP:0002643, a Human Phenotype Ontology term): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/1. (PMID:21253318)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:187600)
These phenotypes are associated with the disease thanatophoric dysplasia type 1 (OMIM:187600, an entry in Online Mendelian Inheritance in Man).