- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: PCS. Frequency: 3/3. (PMID:37055165)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 1/1. (PMID:37055165)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 5/7. (PMID:37055165)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: PCS. Frequency: 0/7. (PMID:37055165)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: PCS. Frequency: 1/6. (PMID:37055165)
- 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: PCS. Frequency: 7/7. (PMID:37055165)
- Decreased circulating insulin-like growth factor 1 concentration (HP:0030353): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:37055165)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: PCS. Frequency: 4/4. (PMID:37055165)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 6/6. (PMID:37055165)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 2/3. (PMID:37055165)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 2/7. (PMID:37055165)
- Peters anomaly (HP:0000659): A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. Evidence: PCS. Frequency: 1/7. (PMID:37055165)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: PCS. Frequency: 4/7. (PMID:37055165)
- Empty sella turcica (HP:6000483): Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland. Evidence: PCS. Frequency: 1/7. (PMID:37055165)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 5/7. (PMID:37055165)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 4/4. (PMID:37055165)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 2/7. (PMID:37055165)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 4/4. (PMID:37055165)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 5/7. (PMID:37055165)
- 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: PCS. Frequency: 2/7. (PMID:37055165)
- Reduced circulating growth hormone concentration (HP:0034323): Concentration of growth hormone in the blood circulation below normal limits. Evidence: PCS. Frequency: 6/6. (PMID:37055165)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 6/7. (PMID:37055165)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 5/7. (PMID:37055165)
- Hippocampal malrotation (HP:0034396): Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus. Evidence: PCS. Frequency: 1/7. (PMID:37055165)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:37055165)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 4/7. (PMID:37055165)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 5/6. (PMID:37055165)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:37055165)
- 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: PCS. Frequency: 1/7. (PMID:37055165)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 6/7. (PMID:37055165)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 7/7. (PMID:37055165)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/2. (PMID:37055165)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: 5/7. (PMID:37055165)
- 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: PCS. Frequency: 3/4. (PMID:37055165)
These phenotypes are associated with the disease Rothmund-Thomson syndrome type 4 (OMIM:620819).