Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Patients have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. It has been reported that mutations in IRX5 cause HMMS by repressing SDF1. SDF1 encodes a chemokine essential for cranial neural crest cell migration.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD25 Syndromes with face or limb anomalies as a major feature
H02234 Hamamy syndrome
Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM
Title
Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?
