- Large fontanelles (HP:0000239): 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. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- 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:1827)
- 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: Very frequent (HP:0040281). (ORPHA:1827)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Bifid nasal tip (HP:0000456): A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- 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: Very frequent (HP:0040281). (ORPHA:1827)
- 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: Very frequent (HP:0040281). (ORPHA:1827)
- 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: Very frequent (HP:0040281). (ORPHA:1827)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Talipes equinovarus (HP:0001762): 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Preaxial foot polydactyly (HP:0001841): Duplication of all or part of the first ray. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Abnormality of the glabella (HP:0002056): An abnormality of the glabella. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Midline central nervous system lipomas (HP:0006866). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Abnormal toenail morphology (HP:0008388): An anomaly of the toenail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Median cleft palate (HP:0009099): Cleft palate of the midline of the palate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Thick nasal alae (HP:0009928): Increase in bulk of the ala nasi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Bifid nose (HP:0011803): Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1827)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1827)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1827)
- Choroid plexus cyst (HP:0002190): A cyst occurring within the choroid plexus within a cerebral ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1827)
- Hypoplasia of the olfactory bulb (HP:0040326): Underdevelopment of the olfactory bulb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1827)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Seizure (HP:0001250): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Large sella turcica (HP:0002690): An abnormal enlargement of the sella turcica. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Patellar hypoplasia (HP:0003065): Underdevelopment of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Aplasia/Hypoplasia of the tibia (HP:0005772): Absence or underdevelopment of the tibia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Retrocerebellar cyst (HP:0006951). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Hypopituitarism (HP:0040075). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1827)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1827)
- Dermoid cyst (HP:0025247): A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1827)
These phenotypes are associated with the disease Acromelic frontonasal dysplasia (ORPHA:1827).