Aase-Smith Syndrome I

Clinical Features

Aase and Smith (1968) described a syndrome in father and 2 children. The infants, one stillborn and one who survived only 2 months, had virtually identical findings: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. The father had joint contractures from birth, deformed ears, and bilateral ptosis. One of the infants was male. One had congenital neuroblastoma and the other had multiple ventricular septal defects and a single sternal ossification center. The same condition may have been present in the infant reported by Potter and Parrish (1942). See pseudoarthrogryposis (177300).

Patton et al. (1985) reported the cases of mother and infant daughter. The daughter had Dandy-Walker malformation with hydrocephalus, cleft palate, bilateral talipes equinovarus, and other anomalies. The mother had cleft palate, limited extension of the elbows and knees, and bilateral talipes equinovarus. Limitation in ability to open mouth, even under anesthesia, delayed repair of the palate. Patton et al. (1985) emphasized the features of the hand as especially important. The fingers are thin with absent knuckles, reduced interphalangeal creases, hypoplastic dermal ridges, and inability to make a complete fist. Symphalangism was not demonstrated in the adult reported by Patton et al. (1985).

Becker and Splitt (2001) reported a mother and 2 affected children with distal arthrogryposis and cleft palate and suggested a clinical overlap between Gordon syndrome (114300) and Aase-Smith syndrome. None of the affected family members had Dandy-Walker malformation, but Becker and Splitt (2001) suggested that it may be a variable feature of Gordon syndrome.

Nomenclature

Gorlin et al. (1990) referred to this disorder as Aase-Smith syndrome I; they referred to the syndrome of anemia and triphalangeal thumbs as Aase-Smith syndrome II, which is the same as Diamond-Blackfan anemia (see DBA6; 612561).