Conditions / Genetic
Laurin-Sandrow syndrome
info · Genetic
A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in
A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Signs and symptoms
- Triphalangeal thumb
- Short foot
- Underdeveloped nasal alae
- Abnormality of the face
- Hand polydactyly
- Patellar aplasia
- Broad foot
- Absent tibia
- Syndactyly
- Fibular duplication
Also known as: MIPduplication of fibuland ulna with absence of tibia and radius; Sandrow syndrome; TMIP; miccor hands and feet with nasal defects; mirror hands and feets-nasal defects syndrome