Short rib-polydactyly syndrome, Verma-Naumoff type

A rare genetic disorder characterized by skeletal abnormalities

Short rib-polydactyly syndrome, Verma-Naumoff type
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Short ribs, polydactyly, narrow thorax, dwarfism
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
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, Verma-Naumoff type is a rare genetic disorder that is part of a group of conditions known as short rib-polydactyly syndromes (SRPS). These syndromes are characterized by skeletal abnormalities, including short ribs, polydactyly (extra fingers or toes), and a narrow thorax, which can lead to respiratory difficulties.

Genetics

Short rib-polydactyly syndrome, Verma-Naumoff 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 condition can vary, but they typically affect genes involved in the development of the skeletal system.

Clinical Features

The main clinical features of this syndrome include:

• Short ribs: The ribs are shorter than normal, which can lead to a narrow chest cavity and respiratory issues.
• Polydactyly: The presence of extra fingers or toes, which can occur on one or both hands and feet.
• Narrow thorax: A narrow chest cavity that can compromise lung development and function.
• Dwarfism: Short stature due to skeletal dysplasia.

Other possible features include cleft palate, congenital heart defects, and renal anomalies.

Diagnosis

Diagnosis of Short rib-polydactyly syndrome, Verma-Naumoff type, is based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the genes associated with the condition.

Management

There is no cure for Short rib-polydactyly syndrome, Verma-Naumoff type. Management is primarily supportive and symptomatic, focusing on addressing respiratory issues, orthopedic problems, and other complications. Multidisciplinary care involving pediatricians, geneticists, orthopedic surgeons, and other specialists is often required.

Prognosis

The prognosis for individuals with Short rib-polydactyly syndrome, Verma-Naumoff type, varies depending on the severity of the condition and the presence of associated anomalies. Respiratory complications are a significant concern and can impact survival and quality of life.

Also see

• Short rib-polydactyly syndrome
• Polydactyly
• Skeletal dysplasia
• Autosomal recessive disorder