Phenotypes associated with the disease short-rib thoracic dysplasia 18 with polydactyly (OMIM:617866):
- 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. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 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. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 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: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Hypoplastic ischia (HP:0003175): Underdevelopment of the ischium, which forms the lower and back part of the hip bone. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 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. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Hydrocephalus (HP:0000238): 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: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Choroid plexus cyst (HP:0002190): A cyst occurring within the choroid plexus within a cerebral ventricle. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 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: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 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: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Vertebral wedging (HP:0008422): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- 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:28400947)
- Dolichocephaly (HP:0000268): 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: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:28400947)