Acrodysostosis

Orpha code: 950OMIM code: 614613

Definition

An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

Disease data
Classification

Malformation syndrome

Synonyms
Acrodysplasia
Akrodyzostoza
Zespół Arklessa i Grahama
Zespół Maroteaux i Malamuta
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
Acrodysostosis with or without multiple hormonal resistance
ORPHA code
950
OMIM code
614613
ICD10 code
Q75.4
ICD11 code
LD2F.16

No additional description.

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