severe achondroplasia-developmental delay-acanthosis nigricans syndrome
A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0018232
obsolete primary bone dysplasia with micromelia (obsolete MONDO:0018232)
excluded_subClassOf
MONDO:0019268
epidermal disease
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019685
FGFR3-related chondrodysplasia
is_a
SADDAN
exact
SADDAN dysplasia
exact
achondroplasia, severe, with developmental delay and acanthosis nigricans
related