Phenotypes associated with the disease Ring chromosome 7 syndrome (ORPHA:1449):
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- 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: Very frequent (HP:0040281). (ORPHA:1449)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- 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: Very frequent (HP:0040281). (ORPHA:1449)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Abnormal posterior cranial fossa morphology (HP:0000932): An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Bilateral ptosis (HP:0001488). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Flat forehead (HP:0004425): A forehead with abnormal flatness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Unilateral ptosis (HP:0007687): A unilateral form of ptosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Severe intrauterine growth retardation (HP:0008846): Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Speech articulation difficulties (HP:0009088): Impairment in the physical production of speech sounds. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Prominent crus of helix (HP:0009899): The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1449)
- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1449)
- Slender finger (HP:0001238): Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1449)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1449)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1449)
- Narrow naris (HP:0009933): Slender, slit-like aperture of the nostril. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1449)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1449)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Facial hemangioma (HP:0000329): Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- 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: Occasional (HP:0040283). (ORPHA:1449)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- 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:1449)
- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Lumbar kyphoscoliosis (HP:0004619). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Hyperpigmented nevi (HP:0007481). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1449)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- Median cleft palate (HP:0009099): Cleft palate of the midline of the palate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)
- 3-4 toe syndactyly (HP:0009779): Syndactyly with fusion of toes three and four. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1449)