" /> Achondrogenesis type 1B - CISMeF





Preferred Label : Achondrogenesis type 1B;

ICD-11 definition : Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.;

ICD-11 synonym : Achondrogenesis, Parenti-Fraccaro type;

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Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

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31/05/2025


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