Orofaciodigital syndrome type 4

Also known as: Baraitser-Burn syndrome, Mohr-Majewski syndrome, OFD4, Oral-facial-digital syndrome type 4

Definition

Orphanet

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

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Symptoms

Medical Term Other Names Description
Hamartoma of tongue Lingual hamartoma A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Talipes equinovarus Equinovarus, Foot, talipes equinovarus, Pes equinovarus, Clubfeet, Club feet, Pes equinus, Club foot, Clubfoot [more] Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.

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