Phenotypes associated with the disease Occipital horn syndrome (ORPHA:198):
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Intellectual disability (HP:0001249): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Global developmental delay (HP:0001263): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- Exostoses (HP:0100777): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:198)
- 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: Frequent (HP:0040282). (ORPHA:198)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- 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: Frequent (HP:0040282). (ORPHA:198)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Bruising susceptibility (HP:0000978): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Hiatus hernia (HP:0002036): The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Gastroparesis (HP:0002578): Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Abnormality of the sense of smell (HP:0004408): An anomaly in the ability to perceive and distinguish scents (odors). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Venous insufficiency (HP:0005293). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Keloids (HP:0010562). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Abnormal esophagus physiology (HP:0025270): Any physiological abnormality of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Synostosis of joints (HP:0100240): The abnormal fusion of neighboring bones across a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:198)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Bladder diverticulum (HP:0000015): Diverticulum (sac or pouch) in the wall of the urinary bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Abnormal pubic bone morphology (HP:0003172): An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Humerus varus (HP:0003874). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Avascular necrosis of the capital femoral epiphysis (HP:0005743): Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Aplasia/hypoplasia of the humerus (HP:0006507): Absence (due to failure to form) or underdevelopment of the humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Large iliac wing (HP:0008818): Increased size of the ilium ala. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Absent tibia (HP:0009556): Absence of the tibia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Femoral hernia (HP:0100541): A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Thick hair (HP:0100874): Increased density of hairs, i.e., and elevated number of hairs per unit area. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:198)
- 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:198)