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| Disease found: | Achondrogenesis |
| Current as of: | October 8, 2024 |
| Disease Overview: | A group of rare skeletal dysplasias [more info]. |
| Signs and Symptoms: | Premature birth, hydrops fetalis, and distinctive craniofacial and skeletal abnormalities, with its subtypes, including type IA and IB. [more info]. |
| Diagnosis: | Clinical assessment of physical features, radiographic examination, and histological analysis, lab for: SLC26A2 mutations; prenatal diagnosis is via ultrasound [more info]. |
| Treatment: | Palliative for live-born neonates. [more info] |
| Clinical Management: | Palliative for live-born neonates. [more info] |
| Referral: | 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: | Type Ia at Boston Children's Hospital [more info] |