Hamamy Syndrome (HMMS)

Alias:

Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility

Hmms

Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome

Craniofacial Dysplasia - Osteopenia Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hamamy Syndrome, also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility, is related to telecanthus and hair whorl. An important gene associated with Hamamy Syndrome is IRX5 (Iroquois Homeobox 5). Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and high palate

Related ID：

MALACARDS：HMM004

OMIM：611174

MESH：D006972