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What is oromandibular limb hypoplasia?

Oromandibular limb hypoplasia is a group of rare conditions that involve congenital malformations of the tongue and jawbones. Congenital means that they occur before birth, and hypoplasia means underdevelopment. Children with this condition can also have limb abnormalities, such as malformed hands or feet.

Symptoms & Causes

What are the symptoms of oromandibular limb hypoplasia?

The most common sign of oromandibular limb hypoplasia is an underdeveloped tongue (microglossia) and jawbones, which result in a receding chin. Oromandibular limb hypoplasia can make it hard for a child to open their mouth, breath, speak, or eat, and often causes drooling. A child with oromandibular limb hypoplasia may also have fused fingers or toes.

What causes oromandibular limb hypoplasia?

Oromandibular limb hypoplasia is extremely rare, and we don’t yet know what causes it. Research is underway to investigate how factors during pregnancy, such as using certain antidepressants or anxiety medications, may play a role.

Diagnosis & Treatments

How is oromandibular limb hypoplasia diagnosed?

Your child’s doctor may diagnose oromandibular limb hypoplasia based on:

  • A detailed review of your child’s medical history
  • An extensive physical exam, including a detailed look at your child’s face and mouth
  • Specialized tests, such as an EKG or hearing tests

How is oromandibular limb hypoplasia treated?

Because oromandibular limb hypoplasia is a combination of conditions, at Boston Children’s Hospital, the craniofacial team at our Cleft and Craniofacial Center designs treatments to address each child’s individual needs.

Surgical treatments may include:

Non-surgical treatments may include:

Our approach to oromandibular limb hypoplasia

Our Craniofacial Program includes some of the world’s most experienced neurosurgeons, plastic surgeons, oral and maxillofacial specialists, dentistry professionals, nursing professionals, psychologists, and social workers.