Craniolenticulosutural dysplasia

What it is

From: Orphanet

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.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Brittle hair · Very frequent (99-80%)

Fragile, easily breakable hair, i.e., with reduced tensile strength.

Carious teeth · Very frequent (99-80%)

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.

Coarse hair · Very frequent (99-80%)

Hair shafts are rough in texture.

Decreased skull ossification · Very frequent (99-80%)

A reduction in the magnitude or amount of ossification of the skull.

Delayed eruption of teeth · Very frequent (99-80%)

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

Frontal bossing · Very frequent (99-80%)

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

High iliac wings · Very frequent (99-80%)

Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

Hypertelorism · Very frequent (99-80%)

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Hypoplasia of teeth · Very frequent (99-80%)

Developmental hypoplasia of teeth.

Hypoplasia of the maxilla · Very frequent (99-80%)

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

Large fontanelles · Very frequent (99-80%)

In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.

Long philtrum · Very frequent (99-80%)

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Microdontia · Very frequent (99-80%)

Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.

Posterior Y-sutural cataract · Very frequent (99-80%)

A type of sutural cataract in which the opacity follows the posterior Y suture.

Other findings in the same source

From: Orphanet

Additional reported features include Posterior wedging of vertebral bodies (Very frequent (99-80%)); Premature loss of teeth (Very frequent (99-80%)); Prominent nasal bridge (Very frequent (99-80%)); Prominent supraorbital ridges (Very frequent (99-80%)); Scoliosis (Very frequent (99-80%)); Short stature (Very frequent (99-80%)); Skeletal dysplasia (Very frequent (99-80%)); Smooth philtrum (Very frequent (99-80%)); Sparse hair (Very frequent (99-80%)); Thin vermilion border (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 28.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Craniolenticulosutural dysplasia is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Craniolenticulosutural dysplasia. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.