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Melnick-Needles syndrome
Pathology:
- severe congenital bone disorder
Genetics:
- associated with defects in FLNA
Clinical manifestations:
- typical facies
- exophthalmos
- full cheeks,
- micrognathia
- malalignment of teeth
- flaring of the metaphyses of long bones
- S-like curvature of bones of legs
- irregular constrictions in the ribs
- sclerosis of base of skull
General
otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder)
Database Correlations
OMIM 309350
References
OMIM :accession 309350