Achondrogenesis

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

A group of rare skeletal dysplasias .

Common symptoms

Premature birthhydrops fetalisand distinctive craniofacial and skeletal abnormalitieswith its subtypesincluding type IA and IB. [ ].

When to suspect

  • Recommendation 1

    Clinical assessment of physical features, radiographic examination, and histological analysis, lab for

  • Recommendation 2

    SLC26A2 mutations

  • Recommendation 3

    prenatal diagnosis is via ultrasound .

How to test

  • Recommendation 1

    Clinical assessment of physical features, radiographic examination, and histological analysis, lab for

  • Recommendation 2

    SLC26A2 mutations

  • Recommendation 3

    prenatal diagnosis is via ultrasound .

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Palliative for live-born neonates. [

Primary care

  • Recommendation 1

    Palliative for live-born neonates. [

Further support

  • Recommendation 1

    No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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