Lethal faciocardiomelic dysplasia

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by polyhydramnios, low birth weight, dwarfism, limb anomalies (including hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II) dysmorphic features (including epicanthal folds, abnormal ears, microretrognathia, microstomia, microglossia, glossoptosis and webbed neck) and severe cardiac defects with a rapid fatal course. There have been no further descriptions in the literature since 1975.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Neonatal

Inheritance

Autosomal recessive

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.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references