- Abnormal midface morphology (HP:0000309): An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1051)
- Decreased corneal sensation (HP:0012155): Reduced ability of the cornea to respond to stimulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1051)
- Broad face (HP:0000283): Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- 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: Frequent (HP:0040282). (ORPHA:1051)
- Severe failure to thrive (HP:0001525). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- 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:1051)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Absent retinal pigment epithelium (HP:0007980): Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Concave nasal ridge (HP:0011120): Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- Choriocapillaris atrophy (HP:0030491): Atrophy of the capillary lamina of choroid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1051)
- 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: Occasional (HP:0040283). (ORPHA:1051)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- 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:1051)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- 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:1051)
- Chorioretinal atrophy (HP:0000533): Atrophy (wasting) of the choroid and retinal layers of the fundus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Respiratory distress (HP:0002098): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Deviated nasal septum (HP:0004411): Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Sleep-wake cycle disturbance (HP:0006979): Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- High anterior hairline (HP:0009890): 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 above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Smooth tongue (HP:0010298): Glossy appearance of the entire tongue surface. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Shoulder dimple (HP:0010782): A subtype of skin dimples occurring in the shoulder region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Primary microcephaly (HP:0011451): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Food intolerance (HP:0012537): A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Corneal ulceration (HP:0012804): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1051)
These phenotypes are associated with the disease Ramos-Arroyo syndrome (ORPHA:1051).