Laryngeal abductor paralysis-intellectual disability syndrome

Orpha code: 2375OMIM code: 308850

Definition

A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.

Disease data
Classification

Malformation syndrome

Synonyms
Plott syndrome
Zespół plotta
ORPHA code
2375
OMIM code
308850
ICD10 code
J38.0
ICD11 code
-

No additional description.

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