MCID: SPL056
MIFTS: 18
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Split-Foot Deformity with Mandibulofacial Dysostosis
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Split-Foot Deformity with Mandibulofacial Dysostosis:
Name: Split-Foot Deformity with Mandibulofacial Dysostosis
57
Characteristics:Orphanet epidemiological data:59
patterson-stevenson-fontaine syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32Classifications:
ICD10:
34
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NIH Rare Diseases
:
53
Patterson-Stevenson-Fontaine syndrome is 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
More information from OMIM:
183700
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Human phenotypes related to Split-Foot Deformity with Mandibulofacial Dysostosis:32 (show all 8)
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MalaCards organs/tissues related to Split-Foot Deformity with Mandibulofacial Dysostosis:41
Bone
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Articles related to Split-Foot Deformity with Mandibulofacial Dysostosis:(show all 12)
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Search
GEO
for disease gene expression data for Split-Foot Deformity with Mandibulofacial Dysostosis.
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