Split-Foot Deformity with Mandibulofacial Dysostosis

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OMIM 58 183700 ICD10 via Orphanet 35 Q87.0 UMLS via Orphanet 75 C1866741 C3489790 Orphanet 60 ORPHA2439

MedGen 43 C1868114 SNOMED-CT via HPO 70 205358006 263681008 275259005 299034005 32113001 32958008 63567004 82203000 87979003 more UMLS 74 C1866741 C1868114

NIH Rare Diseases : ⁵⁴ Patterson-Stevenson-Fontaine syndromeis a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism), cleft palate, and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet, and fusion of toes together (syndactyly). These limb abnormalities together are known as split-foot deformity or ectrodactyly.  Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. Diagnosis of the condition may be based on seeing symptoms in an individual that are consistent with the syndrome. Treatment is focused on improving the symptoms of each person.

MalaCards based summary : Split-Foot Deformity with Mandibulofacial Dysostosis, is also known as patterson-stevenson-fontaine syndrome. Affiliated tissues include bone, and related phenotypes are malar flattening and cleft palate

Description from OMIM: 183700

Clinical features from OMIM:

183700

Search Clinical Trials , NIH Clinical Center for Split-Foot Deformity with Mandibulofacial Dysostosis

Search GEO for disease gene expression data for Split-Foot Deformity with Mandibulofacial Dysostosis.