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Mesomelic shortness of stature with severe skeletal changes in the vertebrae, ankles, knees, and elbows. Present agenesis of the palate, broad nose, and small mouth.

Facio-Renal-Acromesomelic Syndrome.

First described in 1995 as a newly autosomal dominant inherited form of mesomelic shortness of stature by A Verloes and A David.

Autosomal dominant; two families described.

Mesomelic short stature, shorts limbs with severe skeletal changes in the ankles, knees, and elbows, progressive curvature of the forearm, microretrognathia, beaked nose, transverse agenesis of soft palate, nasal speech, down-slanting of palpebral fissures with hypertelorism and ptosis. Hydronephrosis and mild vertebral anomalies. At birth, is associated with short umbilical cord having unusually long skin coverage.

Vertebral anomalies can lead to difficulties in locoregional anesthesia. Renal function should be assessed with the association of hydronephrosis. Difficulty with the upper airways is anticipated given the retromicrognathia and agenesis of the soft palate.

Kantaputra-Gorlin Syndrome: Characterized by bilateral, symmetrical marked shortening of the ulna and shortening and bowing of the radius. Synostoses between the tibia and fibula are present because of an unusually short proximal fibula. The most characteristic feature is the presence of a prominent calcaneus on the ventral surface of the distal fibula. Carpal and tarsal synostoses are present. The average height of affected male adults was 152 cm. This medical entity is very similar to the mesomelia-synostosis syndrome.

Verloes A, David A: Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis. Am J Med Genet 55:205, 1995.  [PubMed: 7717419]

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