craniofrontonasal syndrome
An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
MONDO:0016643
frontonasal dysplasia
excluded_subClassOf
MONDO:0018237
acrofacial dysostosis
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0021635
neurocristopathy
is_a
CFND
exact
CFNS
exact
Craniofrontonasal Dysplasia
exact
craniofrontonasal dysplasia
exact
craniofrontonasal dysplasia, X-linked dominant
exact
craniofrontonasal syndrome
exact