Phenotypes associated with the disease short-rib thoracic dysplasia 20 with polydactyly (OMIM:617925):
- Laryngeal hypoplasia (HP:0008749): Underdevelopment of the larynx. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: IEA. (OMIM:617925)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Septate vagina (HP:0001153): The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Decreased calvarial ossification (HP:0005474): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Hypoplastic pubic bone (HP:0003173): Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: IEA. (OMIM:617925)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Esophageal diverticulum (HP:0100628): The presence of a diverticulum of the esophagus. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Lateral clavicle hook (HP:0000895): An excessive upward convexity of the lateral clavicle. Evidence: PCS. (PMID:27666822)
- 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: IEA. (OMIM:617925)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: IEA. (OMIM:617925)
- Short ribs (HP:0000773): Reduced rib length. Evidence: IEA. (OMIM:617925)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: IEA. (OMIM:617925)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Cleft palate (HP:0000175): 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: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Uterus didelphys (HP:0003762): A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Absent nasal bridge (HP:0005285). Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: IEA. (OMIM:617925)
- Large posterior fontanelle (HP:0004491): An enlargement of the posterior fontanelle relative to age-dependent norms. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Hamartoma of tongue (HP:0011802): A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:617925)
- Postaxial polydactyly (HP:0100259): 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: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Preaxial polydactyly (HP:0100258): A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Horizontal ribs (HP:0000888): 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. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- 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:27158779)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Long thorax (HP:0100818): Increased inferior to superior extent of the thorax. Evidence: IEA. (OMIM:617925)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:27158779)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Low-set ears (HP:0000369): 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: 2/2. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)