- 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: PCS. Frequency: 1/1. (PMID:26365341)
- Tented upper lip vermilion (HP:0010804, a Human Phenotype Ontology term): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 1/1. (PMID:26365341)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. (OMIM:616723)
- Limited elbow extension (HP:0001377, a Human Phenotype Ontology term): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 1/1. (PMID:26365341)
- Femoral bowing (HP:0002980, a Human Phenotype Ontology term): Bowing (abnormal curvature) of the femur. Evidence: IEA. (OMIM:616723)
- Carpal bone hypoplasia (HP:0001498, a Human Phenotype Ontology term): Underdevelopment of one or more carpal bones. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- 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: PCS. Frequency: 5/5. (PMID:26365341)
- Narrow pelvis bone (HP:0003275, a Human Phenotype Ontology term): Reduced side to side width of the pelvis. Evidence: TAS. (OMIM:616723)
- Short nose (HP:0003196, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:26365341)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:26365341)
- Short metacarpal (HP:0010049, a Human Phenotype Ontology term): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. (OMIM:616723)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:616723)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- Small epiphyses (HP:0010585, a Human Phenotype Ontology term): Reduction in the size or volume of epiphyses. Evidence: TAS. (OMIM:616723)
- Short femoral neck (HP:0100864, a Human Phenotype Ontology term): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- Thick vermilion border (HP:0012471, a Human Phenotype Ontology term): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. (OMIM:616723)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): 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: TAS. (OMIM:616723)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: TAS. (OMIM:616723)
- Overlapping toe (HP:0001845, a Human Phenotype Ontology term): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- 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: PCS. Frequency: 1/1. (PMID:26365341)
- Skull asymmetry (HP:0002678, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:616723)
- Premature rupture of membranes (HP:0001788, a Human Phenotype Ontology term): Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. Evidence: PCS. Frequency: 1/1. (PMID:26365341)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: PCS. Frequency: 5/5. (PMID:26365341)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- Craniosynostosis (HP:0001363, a Human Phenotype Ontology term): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: 4/5. (OMIM:616723)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- 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: PCS. Frequency: 1/1. (PMID:26365341)
- Delayed skeletal maturation (HP:0002750, a Human Phenotype Ontology term): 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: 5/5. (PMID:26365341)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: TAS. (OMIM:616723)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. (OMIM:616723)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. (OMIM:616723)
- Proximal femoral epiphysiolysis (HP:0006461, a Human Phenotype Ontology term): Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. Evidence: TAS. (OMIM:616723)
- Autistic behavior (HP:0000729, a Human Phenotype Ontology term): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 1/1. (PMID:26365341)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): 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. (OMIM:616723)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:26365341)
- Thoracolumbar scoliosis (HP:0002944, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:616723)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/1. (PMID:26365341)
- 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: PCS. Frequency: 1/1. (PMID:26365341)
- Short fourth metatarsal (HP:0004689, a Human Phenotype Ontology term): Short fourth metatarsal bone. Evidence: PCS. Frequency: 5/5. (PMID:26365341)
These phenotypes are associated with the disease progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (OMIM:616723, an entry in Online Mendelian Inheritance in Man).