Achondrogenesis type 1B

Orpha code: 93298OMIM code: 600972

Definition

A rare, lethal type of achondrogenesis 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.

Disease data
Classification

Clinical subtype

Synonyms
Achondrogenesis, Parenti-Fraccaro type
Achondrogeneza typu Parenti i Fraccaro
ORPHA code
93298
OMIM code
600972
ICD10 code
Q77.0
ICD11 code
-

No additional description.

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