Aase Syndrome

Definition

Aase syndrome is a rare, autosomal recessive genetic disorder characterized by congenital hypoplastic anemia (CHA) and triphalangeal thumbs (TPT). People with Aase syndrome may have one or more physical abnormalities. Poor growth in childhood is common, but mental retardation and other neurological problems are not associated with Aase syndrome.

Description

Aase syndrome is sometimes also called Aase–Smith syndrome, or Congenital Anemia–Triphalangeal Thumb syndrome. It is a very rare hereditary syndrome involving multiple birth defects. The two symptoms that must be present to consider the diagnosis of Aase syndrome are CHA and TPT. CHA is a significant reduction from birth in the number of red cells in the blood. TPT means that one or both thumbs have three bones (phalanges) rather than the normal two.

Several other physical abnormalities have been described in individuals with Aase syndrome, including narrow shoulders, hypoplastic radius (underdevelopment of one of the bones of the lower arm), heart defect, cleft lip/palate, and late closure of the fontanelles (soft spots on an infant's skull where the bones have not yet fused). The specific cause of Aase syndrome is not known, but recurrence of the condition in siblings implies an abnormal gene is responsible.

Genetic profile

The available evidence suggests Aase syndrome is inherited in an autosomal recessive fashion, meaning that an affected person has two copies of the abnormal gene. Parents of an affected individual carry one abnormal copy of that particular gene, but their other gene of the pair is normal. One copy of the normal gene is sufficient for the parent to be unaffected. If both parents are carriers of a gene for the same autosomal recessive condition, there is a one in four chance in each pregnancy that they will both pass on the abnormal gene and have an affected child.

Autosomal recessive inheritance is suspected for Aase syndrome based on the pattern seen in the families that have been described. An autosomal recessive pattern requires that only siblings are affected by the condition (parents are unaffected gene carriers), and the disorder occurs equally in males and females. An abnormal gene proven to cause Aase syndrome has not been discovered.

Demographics

Aase syndrome is quite rare, with possibly no more than two dozen cases reported in the medical literature.