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Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.
Features include very common findings: Hypermetropia and Thin upper lip vermilion; and common findings: Absent proximal finger flexion creases, Proximal/middle symphalangism of 5th finger, Short middle phalanx of the 5th finger, and Wide nasal bridge and others. 53 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 19 | Lower limb undergrowth, Short foot, Absent proximal finger flexion creases |
Eyes | 3 | Strabismus, Amblyopia, Ptosis |
Ears | 3 | Progressive conductive hearing impairment, Conductive hearing impairment, Bilateral conductive hearing impairment |
Head and neck | 3 | Thin upper lip vermilion, Thick upper lip vermilion, Narrow face |
Brain and nerves | 1 | Waddling gait |
NOG encodes noggin (232 aa). Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Highest expression in Cervix Ectocervix (8.8 TPM) and Cervix Endocervix (7.4 TPM).
Multiple synostoses syndrome 1 is associated with mutations in the NOG gene on chromosome 17.
The NOG protein participates in p75NTR interacts with the NOGO receptor and Formation of paraxial mesoderm pathways.
NOG is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for NOG is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 very common features, 6 common features.
No clinical trials have been registered for multiple synostoses syndrome 1.
3 publications have been identified in PubMed for multiple synostoses syndrome 1. Research spans Review / Meta-Analysis (67%) and Epidemiology / Natural History (33%).
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Deng M (2024). [PMID: 39097287](https://pubmed.ncbi.nlm.nih.gov/39097287/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iran J Public Health*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
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