Majewski's polydactyly syndrome

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Majewski's polydactyly syndrome
Synonyms	Short rib-polydactyly syndrome type II
Pronounce	N/A
Specialty	N/A
Symptoms	Polydactyly, short ribs, narrow thorax, dwarfism, hypoplastic lungs
Complications	Respiratory distress, neonatal death
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Consanguinity
Diagnosis	Prenatal ultrasound, genetic testing
Differential diagnosis	Other short rib-polydactyly syndromes
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	Poor
Frequency	Rare
Deaths	N/A

Majewski's polydactyly syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (polydactyly), along with other physical abnormalities. This condition is named after the Polish geneticist Friedrich Majewski, who first described it.

Clinical Features

Individuals with Majewski's polydactyly syndrome typically exhibit the following clinical features:

• Polydactyly: Extra digits on the hands and/or feet.
• Syndactyly: Fusion of fingers or toes.
• Short stature: Below-average height for age and sex.
• Microcephaly: Smaller than normal head size.
• Craniofacial abnormalities: These may include a prominent forehead, a broad nasal bridge, and a small jaw (micrognathia).

Genetics

Majewski's polydactyly syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in this syndrome have not been definitively identified.

Diagnosis

Diagnosis of Majewski's polydactyly syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to identify carriers of the gene mutation.

Management

There is no cure for Majewski's polydactyly syndrome. Management of the condition focuses on addressing the symptoms and may include:

• Surgical correction of polydactyly and syndactyly.
• Supportive therapies for developmental delays and other associated conditions.
• Regular monitoring and medical care to manage any complications.

Prognosis

The prognosis for individuals with Majewski's polydactyly syndrome varies depending on the severity of the symptoms and the presence of any associated conditions. Early intervention and supportive care can improve the quality of life for affected individuals.

See also

• Polydactyly
• Syndactyly
• Autosomal recessive
• Genetic disorder
• Microcephaly
• Short stature