Phenotypes associated with the disease short-rib thoracic dysplasia 15 with polydactyly (OMIM:617088):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 1/2. (PMID:26130459)
- Brachydactyly (HP:0001156): 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: PCS. Frequency: 1/2. (PMID:26130459)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. (OMIM:617088)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:617088)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 3/3. (PMID:26077881)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: PCS. Frequency: 2/3. (PMID:26130459)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:617088)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: IEA. (OMIM:617088)
- Hamartoma (HP:0010566): A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. Evidence: IEA. (OMIM:617088)
- 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: 3/3. (PMID:26130459)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 1/3. (PMID:26130459)
- Aplasia of the epiglottis (HP:0008753): Absence of the epiglottis. Evidence: PCS. Frequency: 1/3. (PMID:26130459)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: IEA. (OMIM:617088)
- 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: 9/9. (PMID:26077881;PMID:26130459)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: IEA. (OMIM:617088)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. (OMIM:617088)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:617088)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 6/6. (PMID:26077881;PMID:26130459)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/2. (PMID:26130459)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 13/13. (PMID:26130459;OMIM:617088)
- 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: IEA. (OMIM:617088)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 3/3. (PMID:26077881)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: IEA. (OMIM:617088)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: IEA. (OMIM:617088)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: IEA. (OMIM:617088)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. (OMIM:617088)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: PCS. Frequency: 2/2. (PMID:26130459)
- 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: 3/3. (PMID:26130459)
- Hydrometrocolpos (HP:0030010): Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. Evidence: IEA. (OMIM:617088)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:617088)
- 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. Frequency: 3/3. (PMID:26077881)
- 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:26077881)
- 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: 1/2. (PMID:26130459)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: IEA. (OMIM:617088)