Acropectorovertebral dysplasia F form

Other Names: ACRPV; F syndrome; Acropectorovertebral dysplasia

A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).

Epidemiology

It has been described in less than 30 patients from three unrelated families.

cause

The causative gene has been mapped to chromosome region 2q36.

Inheritance

File:Autosomal dominant - en.svg

Autosomal dominant pattern, a 50/50 chance.

This syndrome is transmitted as an autosomal dominant trait with full penetrance.

Signs and symptoms

Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Broad thumb(Broad thumbs)
• Finger syndactyly
• Funnel chest
• Short distal phalanx of finger(Short outermost finger bone)
• Synostosis of carpal bones
• Fusion of wrist bones
• Tarsal synostosis(Fused ankle bones)
• Triphalangeal thumb(Finger-like thumb)

30%-79% of people have these symptoms

• Intellectual disability, mild(Mental retardation, borderline-mild)
• Spina bifida

5%-29% of people have these symptoms

• Camptodactyly of finger(Permanent flexion of the finger)
• Cleft palate(Cleft roof of mouth)
• High, narrow palate(Narrow, high-arched roof of mouth)

NIH genetic and rare disease info

• NIH info on Acropectorovertebral dysplasia F form

Acropectorovertebral dysplasia F form is a rare disease.