Phenotypes associated with the disease Global developmental delay-osteopenia-ectodermal defect syndrome (ORPHA:73223):
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Hypoplastic sweat glands (HP:0007387): Underdevelopment of the sweat glands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Depigmentation/hyperpigmentation of skin (HP:0007483). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Abnormality of hair texture (HP:0010719): An abnormality of the texture of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Abnormal dermal melanosome morphology (HP:0011125): An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Epidermal thickening (HP:0011368): Thickening of the epidermal layer of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Orthokeratotic hyperkeratosis (HP:0025080): A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Abnormal temper tantrums (HP:0025160): Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Impulsivity (HP:0100710): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:73223)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73223)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:73223)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Maxillary lateral incisor microdontia (HP:0001593): Decreased size of the maxillary permanent incisor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Conical incisor (HP:0011065): An abnormal conical morphology of the incisor tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Localized hypoplasia of dental enamel (HP:0011074): A localized form of developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Hypophosphaturia (HP:0012365): An abnormally decreased phosphate concentration in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Dilation of Virchow-Robin spaces (HP:0012520): Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Clinodactyly of the 2nd finger (HP:0040022). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)
- Clinodactyly of the 4th finger (HP:0040025). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:73223)