Phenotypes associated with the disease spondyloepimetaphyseal dysplasia, Krakow type (OMIM:618162, an entry in Online Mendelian Inheritance in Man):
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Rhizomelia (HP:0008905, a Human Phenotype Ontology term): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- 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: PCS. Frequency: 2/2. (PMID:30232230)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30232230)
- Elevated circulating alkaline phosphatase concentration (HP:0003155, a Human Phenotype Ontology term): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Decreased circulating insulin-like growth factor 1 concentration (HP:0030353, a Human Phenotype Ontology term): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:30232230)
- Allergic rhinitis (HP:0003193, a Human Phenotype Ontology term): It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): 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. (PMID:30232230)
- Bruising susceptibility (HP:0000978, a Human Phenotype Ontology term): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Delayed ability to sit (HP:0025336, a Human Phenotype Ontology term): A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. Evidence: PCS. Frequency: 1/2. (PMID:30232230)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/2. (PMID:30232230)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 1/2. (PMID:30232230)
- Decreased circulating IgM concentration (HP:0002850, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Ulnar deviation of the wrist (HP:0003049, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Mesomelia (HP:0003027, a Human Phenotype Ontology term): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Sclerosis of skull base (HP:0002694, a Human Phenotype Ontology term): Increased bone density of the skull base without significant changes in bony contour. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/2. (PMID:30232230)
- Metaphyseal irregularity (HP:0003025, a Human Phenotype Ontology term): Irregularity of the normally smooth surface of the metaphyses. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:30232230)
- Asthma (HP:0002099, a Human Phenotype Ontology term): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Platybasia (HP:0002691, a Human Phenotype Ontology term): A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. Evidence: PCS. Frequency: 1/2. (PMID:30232230)
- 2-3 toe syndactyly (HP:0004691, a Human Phenotype Ontology term): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Knee flexion contracture (HP:0006380, a Human Phenotype Ontology term): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Underdeveloped supraorbital ridges (HP:0009891, a Human Phenotype Ontology term): Flatness of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Irregular epiphyses (HP:0010582, a Human Phenotype Ontology term): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Chiari malformation (HP:0002308, a Human Phenotype Ontology term): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Eczematoid dermatitis (HP:0000964, a Human Phenotype Ontology term): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- 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:30232230)
- Annular pancreas (HP:0001734, a Human Phenotype Ontology term): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: PCS. Frequency: 1/2. (PMID:30232230)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Delayed pubic bone ossification (HP:0008788, a Human Phenotype Ontology term): Delayed maturation and calcification of the pubic bone. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/2. (PMID:30232230)
- Elbow contracture (HP:0034391, a Human Phenotype Ontology term): A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. Evidence: PCS. Frequency: 2/2. (PMID:30232230)
- Immunodeficiency (HP:0002721, a Human Phenotype Ontology term): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. Frequency: 2/2. (PMID:30232230)