Phenotypes associated with the disease Intellectual disability-brachydactyly-Pierre Robin syndrome (ORPHA:364577):
- 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: Frequent (HP:0040282). (ORPHA:364577)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- 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:364577)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- 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:364577)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- 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: Frequent (HP:0040282). (ORPHA:364577)
- Exaggerated cupid's bow (HP:0002263): More pronounced paramedian peaks and median notch of the Cupid's bow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- Long upper lip (HP:0011341): Increased width of the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:364577)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- 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:364577)
- Facial capillary hemangioma (HP:0000996): Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- 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: Occasional (HP:0040283). (ORPHA:364577)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Short columella (HP:0002000): Reduced distance from the anterior border of the naris to the subnasale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- 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: Occasional (HP:0040283). (ORPHA:364577)
- Prominent metopic ridge (HP:0005487): Vertical bony ridge positioned in the midline of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Agenesis of central incisor (HP:0006289): Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Aplasia of the distal phalanx of the 5th finger (HP:0009246): Absence of the distal phalanx of the little (5th) finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Cleft mandible (HP:0010752): Midline deficiency of the mandible and some or all overlying tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Abnormality of canine (HP:0011078): An abnormality of canine tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Delayed peripheral myelination (HP:0011401): Delayed myelination in the peripheral nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Prominence of the zygomatic bone (HP:0012370): Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Thin eyebrow (HP:0045074): Decreased diameter of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)
- Aplasia of the distal phalanx of the 5th toe (HP:0100380). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:364577)