Acropectorovertebral dysplasia

What it is

A rare genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). Soft tissue syndactyly, dental hypoplasia/dysplasia, wide alveolar ridge and high and narrow palate have also been reported in some patients.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, Neonatal

Inheritance

Autosomal dominant

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references