CHAND syndrome

Orpha code: 1401OMIM code: 214350

Definition

A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.

Disease data
Classification

Malformation syndrome

Synonyms
Baughman syndrome
CHANDS
Zespół Baughman
Zespół kręte włosy- ankyloblefaron - dysplastyczne paznokcie
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
ORPHA code
1401
OMIM code
214350
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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