RAPADILINO syndrome

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RAPADILINO syndrome
Synonyms	RAPADILINO
Pronounce
Specialty	Medical genetics
Symptoms	Radial ray defect, patellar aplasia, diarrhea, limb malformations, nasal anomalies
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Mutations in the RECQL4 gene
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Baller-Gerold syndrome, Rothmund-Thomson syndrome
Prevention	N/A
Treatment	Symptomatic treatment, orthopedic surgery
Medication	N/A
Prognosis	Variable, depends on severity of symptoms
Frequency	Rare
Deaths

Alternate names

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

RAPADILINO expanded

A rare syndrome for which the acronym indicates the principal signs:

• RA for radial ray defect,
• PA for both patellae aplasia or hypoplasia and cleft palate or highly arched palate,
• DI for diarrhea and dislocated joints,
• LI for little size and limb malformations,
• NO for long, slender nose and normal intelligence.

Epidemiology

Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified.

Clinical features

Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. --Etiology== RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer.

Genetic counseling

RAPADILINO syndrome is transmitted in an autosomal recessive manner.

Signs and symptoms

Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause.

Cause

RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Treatment

Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma.