Achondrogenesis

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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 .

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

  • Recommendation 1

    Type Ia at Boston Children's Hospital

Sources

No data available

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