- Epicanthus (HP:0000286, a Human Phenotype Ontology term): 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. (OMIM:300373)
- Anal stenosis (HP:0002025, a Human Phenotype Ontology term): Abnormal narrowing of the anal opening. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:300373)
- Fibular hypoplasia (HP:0003038, a Human Phenotype Ontology term): Underdevelopment of the fibula. Evidence: IEA. (OMIM:300373)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): 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: IEA. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:300373)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:300373)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: IEA. (OMIM:300373)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: IEA. (OMIM:300373)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): 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: IEA. (OMIM:300373)
- Gastroesophageal reflux (HP:0002020, a Human Phenotype Ontology term): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: IEA. (OMIM:300373)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: IEA. (OMIM:300373)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:300373)
- Large fontanelles (HP:0000239, a Human Phenotype Ontology term): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. (OMIM:300373)
- Dental crowding (HP:0000678, a Human Phenotype Ontology term): Changes in alignment of teeth in the dental arch. Evidence: TAS. (OMIM:300373)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. (OMIM:300373)
- Tracheomalacia (HP:0002779, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:300373)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): 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: IEA. (OMIM:300373)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. (OMIM:300373)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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. (OMIM:300373)
- Natal tooth (HP:0000695, a Human Phenotype Ontology term): A tooth present at birth or erupting within the first month of life. Evidence: TAS. (OMIM:300373)
- Craniofacial osteosclerosis (HP:0005464, a Human Phenotype Ontology term): Abnormally increased density of craniofacial bone tissue. Evidence: TAS. (OMIM:300373)
- Fibular aplasia (HP:0002990, a Human Phenotype Ontology term): Absence of the fibula. Evidence: IEA. (OMIM:300373)
- Camptodactyly (HP:0012385, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:300373)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. (OMIM:300373)
- Dental malocclusion (HP:0000689, a Human Phenotype Ontology term): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. (OMIM:300373)
- Partial agenesis of the corpus callosum (HP:0001338, a Human Phenotype Ontology term): A partial failure of the development of the corpus callosum. Evidence: IEA. (OMIM:300373)
- Thoracolumbar kyphosis (HP:0005619, a Human Phenotype Ontology term): Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. Evidence: IEA. (OMIM:300373)
- Paranasal sinus hypoplasia (HP:0006784, a Human Phenotype Ontology term): Underdevelopment of the paranasal sinuses. Evidence: IEA. (OMIM:300373)
- Omphalocele (HP:0001539, a Human Phenotype Ontology term): 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: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:300373)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. (OMIM:300373)
- Conductive hearing impairment (HP:0000405, a Human Phenotype Ontology term): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. (OMIM:300373)
- Straight clavicle (HP:0006587, a Human Phenotype Ontology term): An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . Evidence: IEA. (OMIM:300373)
- Pierre-Robin sequence (HP:0000201, a Human Phenotype Ontology term): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: IEA. (OMIM:300373)
- Multicystic kidney dysplasia (HP:0000003, a Human Phenotype Ontology term): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: IEA. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (OMIM:300373)
- Apnea (HP:0002104, a Human Phenotype Ontology term): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. (OMIM:300373)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:300373)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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. (OMIM:300373)
- Broad ribs (HP:0000885, a Human Phenotype Ontology term): Increased width of ribs. Evidence: TAS. (OMIM:300373)
- Hypernasal speech (HP:0001611, a Human Phenotype Ontology term): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: IEA. (OMIM:300373)
- Narrow forehead (HP:0000341, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: TAS. (OMIM:300373)
- Facial palsy (HP:0010628, a Human Phenotype Ontology term): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. (OMIM:300373)
- Flexion contracture of toe (HP:0005830, a Human Phenotype Ontology term): One or more bent (flexed) toe joints that cannot be straightened actively or passively. Evidence: TAS. (OMIM:300373)
- Delayed closure of the anterior fontanelle (HP:0001476, a Human Phenotype Ontology term): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: TAS. (OMIM:300373)
- Laryngeal web (HP:0005950, a Human Phenotype Ontology term): A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. Evidence: IEA. (OMIM:300373)
- Thickened calvaria (HP:0002684, a Human Phenotype Ontology term): The presence of an abnormally thick calvaria. Evidence: TAS. (OMIM:300373)
- Spina bifida occulta (HP:0003298, a Human Phenotype Ontology term): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: TAS. (OMIM:300373)
- Osteopathia striata (HP:0010740, a Human Phenotype Ontology term): A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. Evidence: TAS. (OMIM:300373)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:300373)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. (OMIM:300373)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: IEA. (OMIM:300373)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: 15%. (OMIM:300373)
- Wide intermamillary distance (HP:0006610, a Human Phenotype Ontology term): A larger than usual distance between the left and right nipple. Evidence: IEA. (OMIM:300373)
- X-linked dominant inheritance (HP:0001423, a Human Phenotype Ontology term): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:22043478)
- Headache (HP:0002315, a Human Phenotype Ontology term): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: IEA. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:300373)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. (OMIM:300373)
- Thick lower lip vermilion (HP:0000179, a Human Phenotype Ontology term): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: IEA. (OMIM:300373)
- Arachnodactyly (HP:0001166, a Human Phenotype Ontology term): Abnormally long and slender fingers (spider fingers). Evidence: IEA. (OMIM:300373)
- Oligohydramnios (HP:0001562, a Human Phenotype Ontology term): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. (OMIM:300373)
- Overfolded helix (HP:0000396, a Human Phenotype Ontology term): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: TAS. (OMIM:300373)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. (OMIM:300373)
- Sclerosis of skull base (HP:0002694, a Human Phenotype Ontology term): Increased bone density of the skull base without significant changes in bony contour. Evidence: TAS. (OMIM:300373)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:300373)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:300373)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: 23%. (OMIM:300373)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: IEA. Frequency: 10%. (OMIM:300373)
- Bifid uvula (HP:0000193, a Human Phenotype Ontology term): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. (OMIM:300373)
- Joint contracture of the hand (HP:0009473, a Human Phenotype Ontology term): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:300373)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:300373)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): 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. (OMIM:300373)
- Webbed neck (HP:0000465, a Human Phenotype Ontology term): 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. (OMIM:300373)
- Intestinal malrotation (HP:0002566, a Human Phenotype Ontology term): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:300373)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:300373)
These phenotypes are associated with the disease osteopathia striata with cranial sclerosis (OMIM:300373, an entry in Online Mendelian Inheritance in Man).