- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/3. (PMID:40259859)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 2/2. (PMID:40259859)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Frequency: 2/2. (PMID:40259859)
- Pyloric stenosis (HP:0002021): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: PCS. Frequency: 1/1. (PMID:40259859)
- Respiratory distress (HP:0002098): 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. Frequency: 1/1. (PMID:40259859)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: PCS. Frequency: 1/2. (PMID:40259859)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: PCS. Frequency: 1/1. (PMID:40259859)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 1/1. (PMID:40259859)
- Gastrostomy tube feeding in infancy (HP:0011471): Feeding problem necessitating gastrostomy tube feeding. Evidence: PCS. Frequency: 1/1. (PMID:40259859)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/3. (PMID:40259859)
- 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:40259859)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: PCS. Frequency: 0/2. (PMID:40259859)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 2/3. (PMID:40259859)
- Lumbar scoliosis (HP:0004626). Evidence: PCS. Frequency: 1/3. (PMID:40259859)
- Narrow chest (HP:0000774): 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: 1/3. (PMID:40259859)
- Thoracic dysplasia (HP:0006644). Evidence: PCS. Frequency: 1/3. (PMID:40259859)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 3/3. (PMID:40259859)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 2/3. (PMID:40259859)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/1. (PMID:40259859)
These phenotypes are associated with the disease short-rib thoracic dysplasia 22 without polydactyly (OMIM:621260).