Short rib-polydactyly syndrome, Beermer type

A rare genetic disorder characterized by skeletal abnormalities

Short rib-polydactyly syndrome, Beemer type
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Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Short ribs, polydactyly, skeletal dysplasia
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 management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Short rib-polydactyly syndrome, Beemer 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 dysplasia, which includes short ribs, polydactyly (extra fingers or toes), and other skeletal abnormalities. The Beemer type is one of several subtypes of SRPS, each with distinct clinical features and genetic causes.

Clinical Features

Individuals with Short rib-polydactyly syndrome, Beemer type, typically present with:

• Short ribs: This leads to a narrow thorax, which can cause respiratory distress in newborns.
• Polydactyly: Extra digits on the hands and/or feet are commonly observed.
• Skeletal dysplasia: This includes shortened long bones, abnormal vertebral bodies, and other skeletal anomalies.
• Facial dysmorphism: Some affected individuals may have distinctive facial features.

Genetics

Short rib-polydactyly syndrome, Beemer 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 mutation responsible for the Beemer type has not been fully elucidated, but it is believed to involve genes that play a role in skeletal development.

Diagnosis

Diagnosis of Short rib-polydactyly syndrome, Beemer type, is based on clinical evaluation and the presence of characteristic features. Genetic testing can be used to confirm the diagnosis and differentiate it from other types of short rib-polydactyly syndromes.

Management

There is no cure for Short rib-polydactyly syndrome, Beemer type. Management is supportive and focuses on addressing the symptoms and complications associated with the condition. This may include:

• Respiratory support: Due to the narrow thorax, affected infants may require respiratory assistance.
• Surgical interventions: To correct polydactyly or other skeletal abnormalities.
• Multidisciplinary care: Involving specialists such as geneticists, orthopedic surgeons, and pulmonologists.

Prognosis

The prognosis for individuals with Short rib-polydactyly syndrome, Beemer type, varies depending on the severity of the symptoms and the presence of complications. Early intervention and supportive care can improve quality of life.

Also see

• Short rib-polydactyly syndrome
• Skeletal dysplasia
• Polydactyly
• Genetic disorders