- Duplication of thumb phalanx (HP:0009942): Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:363417)
- Abnormal digit morphology (HP:0011297): A morphological abnormality of a digit, i.e., of a finger or toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:363417)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Abnormally large globe (HP:0001090): Diffusely large eye (with megalocornea) without glaucoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- 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:363417)
- 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:363417)
- 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:363417)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Widely-spaced maxillary central incisors (HP:0001566): Increased distance between the maxillary central permanent incisor tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Proximal finger symphalangism (HP:0006152): The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Severe sensorineural hearing impairment (HP:0008625): A severe form of sensorineural hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Complete duplication of proximal phalanx of the thumb (HP:0009608): Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Partial duplication of thumb phalanx (HP:0009944): A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Complete duplication of the middle phalanx of the 3rd finger (HP:0009966): Complete duplication of the middle phalanx of middle finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Partial duplication of the proximal phalanx of the 3rd finger (HP:0009970): Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Talon cusp (HP:0011087): Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- Synostosis of carpals/tarsals (HP:0100266): The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363417)
- 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:363417)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Abnormal lens morphology (HP:0000517): An abnormality of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- 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:363417)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Tooth malposition (HP:0000692): Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- 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: Occasional (HP:0040283). (ORPHA:363417)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- 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:363417)
- 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: Occasional (HP:0040283). (ORPHA:363417)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- 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: Occasional (HP:0040283). (ORPHA:363417)
- Proximal radio-ulnar synostosis (HP:0005037): An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Radial deviation of finger (HP:0009466): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Cutaneous finger syndactyly (HP:0010554): A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Abnormality of canine (HP:0011078): An abnormality of canine tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Abnormal optic disc morphology (HP:0012795): A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Clinodactyly of the 2nd finger (HP:0040022). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Abnormal spaced incisors (HP:0040159). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Tibial deviation of the 2nd toe (HP:0100345). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
- Tibial deviation of the 5th toe (HP:0100347). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363417)
These phenotypes are associated with the disease Temtamy preaxial brachydactyly syndrome (ORPHA:363417).