What is Rapadilino syndrome?

What is Rapadilino syndrome?

• Rapadilino syndrome: A rare genetic condition characterized primarily by a cleft palate which has a high arch and missing or underdeveloped kneecaps as well as other anomalies.

Rapadilino syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Rapadilino syndrome, or a subtype of Rapadilino syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Rapadilino syndrome as a "rare disease".
Source - Orphanet

Rapadilino syndrome: Introduction

Types of Rapadilino syndrome:

Broader types of Rapadilino syndrome:

• Congenital conditions - physical defects
• Congenital conditions
• Genetic conditions
• Head conditions
• Oral conditions
• Knee conditions
• Musculoskeletal conditions
• Joint conditions
• Limb conditions
• Bone or skeletal conditions
• Lower limb conditions
• more types...»

Who gets Rapadilino syndrome?

Racial predominance for Rapadilino syndrome: Finnish ancestry

What causes Rapadilino syndrome?

Causes of Rapadilino syndrome: see causes of Rapadilino syndrome

What are the symptoms of Rapadilino syndrome?

Symptoms of Rapadilino syndrome: see symptoms of Rapadilino syndrome

Can anyone else get Rapadilino syndrome?

Inheritance: see inheritance of Rapadilino syndrome

Rapadilino syndrome: Testing

Misdiagnosis: see misdiagnosis and Rapadilino syndrome.

How is it treated?

Doctors and Medical Specialists for Rapadilino syndrome: Medical Geneticist ; see also doctors and medical specialists for Rapadilino syndrome.
Treatments for Rapadilino syndrome: see treatments for Rapadilino syndrome
Research for Rapadilino syndrome: see research for Rapadilino syndrome

Name and Aliases of Rapadilino syndrome

Main name of condition: Rapadilino syndrome

radial aplasia, patellar aplasia/hypoplasia and cleft/high palate, Radial and patellar aplasia, Radial and patellar hypoplasia, Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate

Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, Radial and patellar aplasia, Radial and patellar hypoplasia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Rapadilino syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Rapadilino syndrome:

• Rare disorder
• Kyphoscoliosis
• Severe dwarfism
• Abnormal gait
• Leg deformities
• Large joint curvatures
• Bowed legs

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