Phenotypes associated with the disease Kagami-Ogata syndrome (ORPHA:254519):
- Broad philtrum (HP:0000289): Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- 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:254519)
- 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:254519)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Bell-shaped thorax (HP:0001591): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Poor head control (HP:0002421): Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Large placenta (HP:0006267): Increased size of the placenta. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Coat hanger sign of ribs (HP:0006665): An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Delayed ability to sit (HP:0025336): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254519)
- Pursed lips (HP:0000205): An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Large for gestational age (HP:0001520): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- 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: Frequent (HP:0040282). (ORPHA:254519)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Frontal hirsutism (HP:0011335): Excessive amount of hair growth on forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254519)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254519)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254519)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254519)
- Hepatoblastoma (HP:0002884): A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254519)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254519)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254519)
- Seizure (HP:0001250): 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254519)