Brachyolmia-amelogenesis imperfecta syndrome

Orpha code: 2899OMIM code: 601216

Definition

An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.

Disease data
Classification

Malformation syndrome

Synonyms
Platyspondyly-amelogenesis imperfecta syndrome
platyspondylia - amelogenesis imperfecta
Zespół Verloesa i Bourguignona
Verloes-Bourguignon syndrome
ORPHA code
2899
OMIM code
601216
ICD10 code
Q76.3
ICD11 code
LD24.5Y

No additional description.

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