- Tibial bowing (HP:0002982, a Human Phenotype Ontology term): A bending or abnormal curvature of the tibia. Evidence: PCS. Frequency: 2/4. (PMID:10377013)
- Severe short stature (HP:0003510, a Human Phenotype Ontology term): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 4/4. (PMID:10377013)
- Palmoplantar cutis laxa (HP:0007517, a Human Phenotype Ontology term): Loose, wrinkled skin of hands and feet. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Femoral bowing (HP:0002980, a Human Phenotype Ontology term): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 2/4. (PMID:10377013)
- 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: 1/4. (PMID:10377013)
- Focal impaired awareness seizure (HP:0002384, a Human Phenotype Ontology term): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Profound intellectual disability (HP:0002187, a Human Phenotype Ontology term): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Skin tags (HP:0010609, a Human Phenotype Ontology term): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Gastroesophageal reflux (HP:0002020, a Human Phenotype Ontology term): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. (PMID:10377013)
- 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: 3/4. (PMID:10377013)
- Acanthosis nigricans (HP:0000956, a Human Phenotype Ontology term): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. Frequency: 3/4. (PMID:10377013)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 2/2. (PMID:10377013)
- Uterine leiomyoma (HP:0000131, a Human Phenotype Ontology term): The presence of a leiomyoma of the uterus. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 3/3. (PMID:10377013)
- Central apnea (HP:0002871, a Human Phenotype Ontology term): Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Redundant skin (HP:0001582, a Human Phenotype Ontology term): Loose and sagging skin often associated with loss of skin elasticity. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- 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: 3/3. (PMID:10377013)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Exostoses (HP:0100777, a Human Phenotype Ontology term): An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. (PMID:10377013)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10053006)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:10377013)
- Rhizomelia (HP:0008905, a Human Phenotype Ontology term): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. (PMID:10377013)
- Megalencephaly (HP:0001355, a Human Phenotype Ontology term): Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Disproportionate short stature (HP:0003498, a Human Phenotype Ontology term): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: PCS. (PMID:10377013)
- Wide anterior fontanel (HP:0000260, a Human Phenotype Ontology term): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 2/4. (PMID:10377013)
- Urinary incontinence (HP:0000020, a Human Phenotype Ontology term): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Severe intellectual disability (HP:0010864, a Human Phenotype Ontology term): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Irregular menstruation (HP:0000858, a Human Phenotype Ontology term): Abnormally high variation in the amount of time between periods. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Respiratory failure (HP:0002878, a Human Phenotype Ontology term): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): 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: 1/4. (PMID:10377013)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 2/4. (PMID:10377013)
- Breech presentation (HP:0001623, a Human Phenotype Ontology term): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: PCS. Frequency: 4/4. (PMID:10377013)
- Small foramen magnum (HP:0002677, a Human Phenotype Ontology term): An abnormal narrowing of the foramen magnum. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Exotropia (HP:0000577, a Human Phenotype Ontology term): A form of strabismus with one or both eyes deviated outward. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- 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: 1/4. (PMID:10377013)
- Brain abscess (HP:0030049, a Human Phenotype Ontology term): A collection of pus, immune cells, and other material in the brain. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): 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: 1/4. (PMID:10377013)
- Pulmonary arterial hypertension (HP:0002092, a Human Phenotype Ontology term): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Kyphosis (HP:0002808, a Human Phenotype Ontology term): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. (PMID:10377013)
- Bowel incontinence (HP:0002607, a Human Phenotype Ontology term): Involuntary fecal soiling in adults and children who have usually already been toilet trained. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 1/3. (PMID:10377013)
- Neonatal death (HP:0003811, a Human Phenotype Ontology term): Death within the first 28 days of life. Evidence: PCS. Frequency: 1/4. (PMID:10377013)
- 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: 1/4. (PMID:10377013)
These phenotypes are associated with the disease severe achondroplasia-developmental delay-acanthosis nigricans syndrome (OMIM:616482, an entry in Online Mendelian Inheritance in Man).