Question

What phenotype manifestations of spondylocarpotarsal synostosis syndrome are directly supported by PubMed abstracts and should be represented in the phenotype section of kb/disorders/Spondylocarpotarsal_Synostosis_Syndrome.yaml?

Output

SCTSS phenotype curation summary

Core axial and appendicular skeletal findings retained

Disproportionate short stature
Vertebral fusion
Block vertebrae
Carpal synostosis / coalition
Tarsal synostosis / coalition
Scoliosis
Lordosis / hyperlordosis

Clinically important additional phenotypes supported by abstracts

Short neck
Delayed ossification of carpal bones
Hearing impairment
Joint stiffness / joint limitation
Clinodactyly
Pes planus
Enamel hypoplasia
Cleft palate
Round face

Claims intentionally softened or avoided

Frequency qualifiers were omitted because the available abstracts mostly support disease-phenotype association rather than whole-disease frequency bands.
Onset qualifiers were omitted because age-of-onset detail was generally in full text rather than the abstract.
Sensorineural hearing loss was broadened to hearing impairment because the abstract literature supports conductive, mixed, and sensorineural forms across different reports.
Short trunk, clubfoot, pectus carinatum, winged scapula, rib anomalies, coxa valga, gait difficulty, and ophthalmologic compromise were reviewed but not promoted into the final phenotype list because they were either difficult to ground cleanly to HPO with the available abstract evidence or appeared too family-specific for the narrow phenotype refresh requested here.

References

PMID:10766994
PMID:17635842
PMID:18257094
PMID:18470895
PMID:28145000
PMID:29566257
PMID:37781000
PMID:39086440