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Suleiman-El-Hattab syndrome

Summary

Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by Suleiman et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C20orf13, SULEHS, dJ585I14.2, TASP1
    Summary: taspase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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