Phenotypes associated with the disease Eiken syndrome (OMIM:600002):
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. (OMIM:600002)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. (OMIM:600002)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: PCS. Frequency: 2/2. (PMID:31297790;PMID:29987841)
- 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: 1/1. (PMID:31297790)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: TAS. (OMIM:600002)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Multiple impacted teeth (HP:0001571): The presence of multiple impacted teeth. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Flattened epiphysis (HP:0003071): Abnormal flatness (decreased height) of epiphyses. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- 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: PCS. Frequency: 1/1. (PMID:31297790)
- Long hallux (HP:0001847): Increased length of the big toe. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Persistence of primary teeth (HP:0006335): Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Thick lower lip vermilion (HP:0000179): 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: PCS. Frequency: 1/1. (PMID:29987841)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- 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: PCS. Frequency: 0/1. (PMID:29987841)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: PCS. (PMID:31297790)
- Broad metatarsal (HP:0001783): Increased side-to-side width of a metatarsal bone. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 2/2. (PMID:31297790;PMID:29987841)
- Long thumb (HP:0032524): Length of the thumb is greater than normal. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Type A1 brachydactyly (HP:0009371). Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Pseudoepiphyses (HP:0010584). Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Multiple unerupted teeth (HP:0006283): The presence of multiple embedded tooth germs which have failed to erupt. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Eruption failure (HP:0000706): A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Delayed tarsal ossification (HP:0008103): Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: PCS. Frequency: 2/2. (PMID:31297790;PMID:29987841)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- 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: TAS. (OMIM:600002)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 2/2. (PMID:31297790;PMID:29987841)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/1. (PMID:29987841)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: PCS. Frequency: 1/1. (PMID:31297790)
- Broad ribs (HP:0000885): Increased width of ribs. Evidence: PCS. Frequency: 1/1. (PMID:31297790)