Phenotypes associated with the disease spondyloepiphyseal dysplasia, Holling type (OMIM:621345):
- 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: 2/2. (PMID:35266227)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: PCS. Frequency: 2/2. (PMID:35266227)
- Abnormal circulating insulin-like growth factor 1 concentration (HP:0030352): An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:35266227)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:35266227)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 0/1. (PMID:35266227)
- Abnormality of circulating cortisol level (HP:0011731): An abnormality of the concentration of cortisol in the blood. Evidence: PCS. Frequency: 0/1. (PMID:35266227)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 2/2. (PMID:35266227)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 0/1. (PMID:35266227)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: PCS. Frequency: 2/2. (PMID:35266227)
- Abnormal circulating hepatic transaminase concentration (HP:0430135): Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase. Evidence: PCS. Frequency: 0/1. (PMID:35266227)
- Secondary microcephaly (HP:0005484): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: PCS. Frequency: 1/2. (PMID:35266227)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- Small epiphyses of the phalanges of the hand (HP:0010236): Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- 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: 2/2. (PMID:35266227)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/2. (PMID:35266227)
- Abnormal circulating vitamin D concentration (HP:0100511): Concentration of vitamin D or a vitamin D metabolite in the blood circulation outside of normal limits. Evidence: PCS. Frequency: 0/2. (PMID:35266227)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:35266227)
- Delayed ossification of pubic rami (HP:0008785): Delayed maturation and calcification of the rami (branches) of the pubic bone. Evidence: PCS. Frequency: 2/2. (PMID:35266227)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:35266227)
- 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:35266227)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: PCS. Frequency: 2/2. (PMID:35266227)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: PCS. Frequency: 1/1. (PMID:35266227)