Treacher-Collins syndrome
A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
MONDO:0015334
obsolete branchial arch or oral-acral syndrome (obsolete MONDO:0015334)
excluded_subClassOf
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0020157
obsolete syndromic palpebral coloboma (obsolete MONDO:0020157)
excluded_subClassOf
MONDO:0020167
obsolete malposition of external canthus (obsolete MONDO:0020167)
excluded_subClassOf
MONDO:0020190
obsolete eyebrow/eyelashes distichiasis (obsolete MONDO:0020190)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015483
mandibulofacial dysostosis
is_a
Franceschetti-Klein syndrome
exact
MFD1
related
TCOF
related
TCS
related
Treacher Collins Syndrome
exact
Treacher Collins syndrome
exact
Treacher-Collins syndrome
exact
mandibulofacial dysostosis without limb anomalies
exact
SPBP23A10.07 SPAC1687.01 SPBC1289.07c