Short rib-polydactyly syndrome, Saldino-Noonan type

A rare genetic disorder characterized by skeletal abnormalities

Short rib-polydactyly syndrome, Saldino-Noonan type
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Short ribs, polydactyly, dwarfism, congenital heart defects
Complications	N/A
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Ultrasound, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic and supportive
Medication	N/A
Prognosis	Poor
Frequency	N/A
Deaths	N/A

Short rib-polydactyly syndrome, Saldino-Noonan type is a rare autosomal recessive genetic disorder characterized by a combination of skeletal abnormalities, including short ribs, polydactyly (extra fingers or toes), and other developmental anomalies. It is one of several types of short rib-polydactyly syndromes, which are part of a group of disorders known as ciliopathies.

Clinical Features

The Saldino-Noonan type of short rib-polydactyly syndrome presents with a distinct set of clinical features:

• Short ribs: The ribs are significantly shorter than normal, which can lead to respiratory distress due to restricted lung development.
• Polydactyly: Affected individuals often have extra fingers or toes, which can vary in number and location.
• Dwarfism: There is a notable shortening of the limbs, leading to disproportionate dwarfism.
• Facial abnormalities: These may include a cleft lip or palate, a small jaw (micrognathia), and a flat nasal bridge.
• Organ defects: Congenital heart defects, kidney abnormalities, and liver fibrosis may be present.

Genetics

Short rib-polydactyly syndrome, Saldino-Noonan type, is inherited in an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific genetic mutations responsible for this syndrome are located in genes that 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.

Diagnosis

Diagnosis of this syndrome is typically made prenatally through ultrasound imaging, which can reveal the characteristic skeletal abnormalities. Postnatal diagnosis may involve genetic testing to identify mutations in the genes associated with the syndrome. Radiographic imaging and clinical examination are also used to assess the extent of skeletal and organ involvement.

Management

There is no cure for short rib-polydactyly syndrome, Saldino-Noonan type. Management is primarily supportive and symptomatic, focusing on addressing respiratory issues, feeding difficulties, and other complications. Multidisciplinary care involving pediatricians, geneticists, orthopedic surgeons, and other specialists is often required.

Prognosis

The prognosis for individuals with this syndrome is generally poor, with many affected infants not surviving beyond the neonatal period due to severe respiratory insufficiency and other complications. Long-term survival is rare, and those who do survive often have significant developmental and physical challenges.

Also see

• Ciliopathy
• Polydactyly
• Dwarfism
• Congenital heart defect