Short rib – polydactyly syndrome

A rare genetic disorder characterized by skeletal abnormalities and polydactyly

Short rib – polydactyly syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Short ribs, polydactyly, skeletal dysplasia
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic and supportive
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Short rib – polydactyly syndrome (SRPS) is a group of rare genetic disorders characterized by the presence of short ribs, polydactyly (extra fingers or toes), and other skeletal abnormalities. These syndromes are part of a broader category of conditions known as skeletal dysplasias.

Classification

Short rib – polydactyly syndrome is classified into several types based on clinical features and genetic findings. The main types include:

• Type I (Saldino-Noonan syndrome)
• Type II (Majewski syndrome)
• Type III (Verma-Naumoff syndrome)
• Type IV (Beemer-Langer syndrome)

Each type is associated with specific genetic mutations and varying degrees of severity in symptoms.

Genetics

SRPS is typically inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Several genes have been implicated in SRPS, including mutations in the DYNC2H1, IFT80, and WDR34 genes, among others. These genes are involved in the development and function of cilia, which are hair-like structures on the surface of cells that play a crucial role in cell signaling and development.

Clinical Features

The hallmark features of SRPS include:

• Short ribs: This leads to a narrow chest, which can cause respiratory difficulties.
• Polydactyly: Extra fingers or toes, which may be fully formed or rudimentary.
• Skeletal dysplasia: Abnormal development of bones, leading to short stature and other deformities.

Additional features may include cleft lip and palate, congenital heart defects, and renal anomalies.

Diagnosis

Diagnosis of SRPS is based on clinical evaluation, imaging studies such as X-rays to assess skeletal abnormalities, and genetic testing to identify specific mutations. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history.

Management

There is no cure for SRPS, and treatment is primarily supportive and symptomatic. Management may involve:

• Respiratory support for those with severe chest restriction.
• Surgical correction of polydactyly and other skeletal deformities.
• Regular monitoring and management of associated conditions such as heart defects.

Prognosis

The prognosis for individuals with SRPS varies depending on the type and severity of the condition. Some forms are lethal in the perinatal period, while others may allow for survival into childhood or adulthood with significant medical support.

Also see

• Skeletal dysplasia
• Polydactyly
• Ciliopathy
• Genetic disorder