Phenotypes associated with the disease spondylocostal dysostosis 1, autosomal recessive (OMIM:277300):
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. (PMID:10742114)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: PCS. (PMID:12746394)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 14/15. (PMID:12746394;PMID:12833407;PMID:15200511)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: PCS. Frequency: 12/13. (PMID:12746394;PMID:15200511)
- Abnormal odontoid process morphology (HP:0003310): Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. Evidence: TAS. (OMIM:277300)
- 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: 3/3. (PMID:15200511)
- Rib spur (HP:6000652): A bony projection (spur, osteophyte) originating from a rib. Evidence: PCS. (PMID:26167215)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 14/15. (PMID:12833407;PMID:15200511;PMID:10742114)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. (PMID:10742114)
- Rib fusion (HP:0000902): Complete or partial merging of adjacent ribs. Evidence: PCS. Frequency: 2/2. (PMID:12833407)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: PCS. Frequency: 2/3. (PMID:15200511)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: PCS. Frequency: 4/5. (PMID:12833407;PMID:15200511)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: IEA. Frequency: 2/2. (PMID:12833407)
- 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:12746394)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 3/4. (PMID:29765785;PMID:15200511)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 2/2. (PMID:12833407)
- Block vertebrae (HP:0003305): Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). Evidence: TAS. (OMIM:277300)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. (OMIM:277300)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. (OMIM:277300)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 1/2. (PMID:12833407)