Mandibuloacral dysplasia associated to MTX2

What it is

A rare primary bone dysplasia characterized by postnatal growth retardation, generalized lipodystrophy, skeletal (delayed closure of sutures, clavicular hypoplasia, dysplastic femoral head, acroosteolysis of distal phalanges, osteopenia/osteoporosis) and cardiac manifestations (including left ventricular hypertrophy, mitral valve calcifications/prolapse/insufficiency and mitral regurgitation), skin changes (atrophic skin, poikiloderma and hyperkeratosis), progeroid traits, and dysmorphic facial features (including prominent eyes, long pinched nose, full cheeks, microstomia and mandibular hypoplasia). Most of the patients also present with sparse body hair, nail dystrophy, joint contracture, hypotonia, hepatosplenomegaly and hypertension. Additional clinical features may include renal glomerulosclerosis and severe proteinuria, recurrent pulmonary infections and seizures.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Childhood

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.

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