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At a glance

It is part of a spectrum of diseases called osteochondrodysplasia and is associated with a contiguous gene deletion syndrome. Mesomelic shortness of stature is due to severe skeletal changes in the vertebrae, ankles, knees, and elbows. Patients affected present agenesis of the palate, broad nose, and a small mouth. Other radiological features include progressive intracarpal or intratarsal bone fusion, and fusion of metacarpal bones with proximal phalanges. The presence of ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies complete the clinical presentation.


Facio-Renal-Acromesomelic Syndrome: Verloes-David Syndrome; Mesomelic Dysplasia Acral Synostoses Syndrome; Verloes-David-Pfeiffer Type Syndrome; Mesomelia Synostoses Syndrome; Chromosome 8q13 Deletion Syndrome.


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


There are only two families described in the literature.

Genetic inheritance

It is believed inherited as an autosomal dominant pattern characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations.

Clinical aspects

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, downslanting of palpebral fissures with hypertelorism and ptosis. Hydronephrosis and mild vertebral anomalies are seen. At birth, is associated with short umbilical cord having unusually long skin coverage.

Anesthetic considerations

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.

Other condition to be considered

  • 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.


Isidor  B, Hamel  A, Plasschaert  F,  et al: Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical course. Am J Med Genet A 149A(10):2220–2225, 2009.  [PubMed: 19725128]
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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