Hypoglossia-hypodactyly syndrome

A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.

Cleft lip

A gap in the lip or lips.


Total: 1

                       


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PMID (PMCID)
8737650
 MIXED_SAMPLE Infant, Newborn
CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years.
Chen CP, Liu FF, Jan SW, Lin SP, Lan CC.
Am J Med Genet. 1996;63(3):447-53.
One had an oromandibular-limb hypogenesis syndrome with a cleft lip and jejunal atresia, a second had an oromandibular-limb hypogenesis (Hanhart) syndrome, a third had severe flexion deformity at the hips and hyperextension at the knees with meconium peritonitis and intestinal obstruction, and a fourth had Poland anomaly.