MedGen

Alfadhel syndrome (AFDL) is an autosomal recessive neurodevelopmental disorder with features of global developmental delay, hypotonia, and facial dysmorphism (Asiri et al., 2020, Bertoli-Avella et al., 2021). [from OMIM]

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. [from ORDO]

Widening of the nostrils upon inhalation as a manifestation of respiratory distress. [from HPO]