Craniolenticulosutural dysplasia

What it is

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by large and late-closing fontanels (the anterior fontanel may not completely ossify in adulthood) associated with facial dysmorphism and mild generalized skeletal dysplasia. Patients usually present with short stature, significant hypertelorism and eye abnormalities (early onset cataract and other lens abnormalities, esotropia, optic atrophy). Associated facial features include abnormal hair (sparce and brittle), hyperpigmentation with capillary hemangioma on the forehead, macrocephaly, frontal bossing, wide nasal bridge, long philtrum, large mouth, thin vermilion, high arched palate and abnormal dentition. Other associated morphological abnormalities include vertebral wedging with scoliosis, high and narrow iliac wings, pectus excavatum, joint hypermobility and flat feet.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, 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