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1.

Dysostosis multiplex, Ain-Naz type

The Ain-Naz type of dysostosis multiplex (DMAN) is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability. Early death has been observed in some patients (Ain et al., 2021). [from OMIM]

MedGen UID:
1780944
Concept ID:
C5444223
Disease or Syndrome
2.

Wide humerus

MedGen UID:
867351
Concept ID:
C4021715
Anatomical Abnormality

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