Spondylometaphyseal dysplasia, Sedaghatian type

What it is

A rare spondylodysplastic dysplasia characterized by severe neonatal hypotonia, spondylometaphyseal dysplasia, cardiac arrhythmia, and central nervous system anomalies leading to death in the first days of life due to cardiorespiratory failure. Skeletal anomalies include irregular appearance of the iliac crest and bone, abnormal long bones of the extremities (including shortening, widening and cupping), and increased intervertebral disc space. Visceral anomalies include subendocardial myocarditis, myocardial necrosis, adrenal and pulmonary hemorrhage. Cranial magnetic resonance imaging reveals intracranial abnormalities such as simplified gyral pattern, hypogenesis of the corpus callosum, and cerebellar hypoplasia.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Antenatal, 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.

Gene

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