- Micromelia (HP:0002983, a Human Phenotype Ontology term): The presence of abnormally small extremities. Evidence: PCS. Frequency: 1/2. (PMID:27666822)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:27666822)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: PCS. (PMID:27666822)
- Thoracic hypoplasia (HP:0005257, a Human Phenotype Ontology term). Evidence: PCS. (PMID:27666822)
- 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:617895)
- Ambiguous genitalia (HP:0000062, a Human Phenotype Ontology term): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: IEA. (OMIM:617895)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 2/2. (PMID:27666822)
- Relative macrocephaly (HP:0004482, a Human Phenotype Ontology term): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 2/2. (PMID:27666822)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/2. (PMID:27666822)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: IEA. (OMIM:617895)
- Respiratory failure (HP:0002878, a Human Phenotype Ontology term): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. (PMID:27666822)
- Lateral clavicle hook (HP:0000895, a Human Phenotype Ontology term): An excessive upward convexity of the lateral clavicle. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:27666822)
- Lateral clavicle hook (HP:0000895, a Human Phenotype Ontology term): An excessive upward convexity of the lateral clavicle. Evidence: PCS. (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: IEA. (OMIM:617895)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: PCS. Frequency: 1/2. (PMID:27666822)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. (PMID:27666822)
- 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: 1/2. (PMID:27666822)
- 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: IEA. (OMIM:617895)
- Postaxial polydactyly (HP:0100259, a Human Phenotype Ontology term): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: PCS. Frequency: 1/2. (PMID:27666822)
- Hypoplastic ilia (HP:0000946, a Human Phenotype Ontology term): Underdevelopment of the ilium. Evidence: PCS. (PMID:27666822)
- Horizontal ribs (HP:0000888, a Human Phenotype Ontology term): A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. Evidence: PCS. (PMID:27666822)
- 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:27666822)
- Omphalocele (HP:0001539, a Human Phenotype Ontology term): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: IEA. (OMIM:617895)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 2/2. (PMID:27666822)
- Syndactyly (HP:0001159, a Human Phenotype Ontology term): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. (OMIM:617895)
- Proptosis (HP:0000520, a Human Phenotype Ontology term): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. (OMIM:617895)
- Hypoplasia of the radius (HP:0002984, a Human Phenotype Ontology term): Underdevelopment of the radius. Evidence: PCS. (PMID:27666822)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/2. (PMID:27666822)
- Prominent occiput (HP:0000269, a Human Phenotype Ontology term): Increased convexity of the occiput (posterior part of the skull). Evidence: PCS. Frequency: 2/2. (PMID:27666822)
These phenotypes are associated with the disease short-rib thoracic dysplasia 19 with or without polydactyly (OMIM:617895, an entry in Online Mendelian Inheritance in Man).