Split hand split foot mandibular hypoplasia

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Split hand/split foot mandibular hypoplasia
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Synonyms
Pronounce	N/A
Specialty	Medical genetics, Orthopedics, Dentistry
Symptoms	Split hand/split foot deformity, mandibular hypoplasia, micrognathia, cleft palate
Complications
Onset	Congenital
Duration	Lifelong
Types
Causes	Genetic mutations
Risks	Family history of the condition
Diagnosis	Clinical examination, genetic testing
Differential diagnosis
Prevention
Treatment	Surgical correction, supportive care
Medication
Prognosis	Variable
Frequency	Rare
Deaths

Split hand/split foot mandibular hypoplasia is a rare congenital disorder characterized by the malformation of the hands and feet (often referred to as split hand/split foot or lobster claw deformity) and underdevelopment of the mandible (mandibular hypoplasia). This condition may also be associated with micrognathia (a small jaw), cleft palate, and other craniofacial anomalies. The disorder falls under the broader category of ectodermal dysplasias, which affect the development of the ectodermal tissues.

Symptoms and Signs

The primary features of split hand/split foot mandibular hypoplasia include:

• Split hand/split foot deformity: This can vary in severity from mild notches in the fingers or toes to complete clefting of the hands or feet, leading to a lobster claw-like appearance.
• Mandibular hypoplasia: Underdevelopment of the lower jaw, which can affect facial appearance and function.
• Micrognathia: A smaller than normal jaw, which can complicate breathing, feeding, and speech.
• Cleft palate: An opening in the roof of the mouth that affects eating, speaking, and can lead to ear infections.

Causes

The exact cause of split hand/split foot mandibular hypoplasia is not fully understood, but it is believed to involve genetic mutations. The condition can be inherited in an autosomal dominant manner, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. However, many cases occur in individuals with no family history of the condition, suggesting new mutations or complex inheritance patterns.

Diagnosis

Diagnosis of split hand/split foot mandibular hypoplasia is primarily based on physical examination and the characteristic features of the condition. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, especially in families planning future pregnancies.

Treatment

Treatment for split hand/split foot mandibular hypoplasia is symptomatic and supportive. It may include:

• Surgical correction of hand and foot deformities to improve function and appearance.
• Surgical intervention for mandibular hypoplasia and micrognathia, which may involve bone grafts or distraction osteogenesis to lengthen the jaw.
• Management of cleft palate through surgery and speech therapy.
• Regular monitoring and supportive care for any associated complications, such as dental problems or hearing loss due to ear infections.

Prognosis

The prognosis for individuals with split hand/split foot mandibular hypoplasia varies depending on the severity of the deformities and the success of surgical interventions. With appropriate treatment, most individuals can lead active lives.

See also

• Ectodermal dysplasia
• Cleft palate
• Orthopedic surgery
• Genetic disorder

Split hand split foot mandibular hypoplasia Resources
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