Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

What it is

From: Orphanet

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

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.

Abnormal bone ossification · Very frequent (99-80%)

Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.

D-2-hydroxyglutaric aciduria · Obligate (100%)

An increased concentration of 2-hydroxyglutaric acid in the urine.

Metaphyseal enchondromatosis · Very frequent (99-80%)

An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.

Metaphyseal irregularity · Very frequent (99-80%)

Irregularity of the normally smooth surface of the metaphyses.

Metaphyseal widening · Very frequent (99-80%)

Abnormal widening of the metaphyseal regions of long bones.

Multiple enchondromatosis · Very frequent (99-80%)

Abnormal joint morphology · Frequent (79-30%)

An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.

Failure to thrive · Frequent (79-30%)

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Growth delay · Frequent (79-30%)

A deficiency or slowing down of growth pre- and postnatally.

Intrauterine growth retardation · Frequent (79-30%)

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Irregular vertebral endplates · Frequent (79-30%)

An irregular surface of the vertebral end plates, which are normally relatively smooth.

Metaphyseal cupping · Frequent (79-30%)

Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.

Platyspondyly · Frequent (79-30%)

A flattened vertebral body shape with reduced distance between the vertebral endplates.

Short phalanx of finger · Frequent (79-30%)

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Other findings in the same source

From: Orphanet

Additional reported features include Short stature (Frequent (79-30%)); Metaphyseal chondromatosis of femur (Frequent (79-30%)); Metaphyseal chondromatosis of radius (Frequent (79-30%)); Metaphyseal chondromatosis of tibia (Frequent (79-30%)); Metaphyseal chondromatosis of ulna (Frequent (79-30%)); Abnormal globus pallidus morphology (Occasional (29-5%)); Abnormality of the pons (Occasional (29-5%)); Abnormality of the septum pellucidum (Occasional (29-5%)); Acute myelomonocytic leukemia (Occasional (29-5%)); Broad forehead (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood; Infancy; Neonatal

Inheritance in the source

From: Orphanet

Not applicable

Which doctor should you see?

The suggested department for discussing Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is Orthopaedics, with a orthopaedic specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

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.

• What explains the change in pain, movement or function?
• Which activities need adjustment while the diagnosis is being clarified?
• What are the roles of rehabilitation, observation and surgery in this situation?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. 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.