Table 4.

Disorders with Mandibulofacial Dysostosis to Consider in the Differential Diagnosis of Treacher Collins Syndrome

DisorderGeneMOIDistinguishing Clinical Features
Mandibulofacial dysostosis with microcephaly EFTUD2 AD
  • Microcephaly
  • ID
  • Asymmetry of facial features
  • Esophageal atresia
  • Thumb abnormalities
Nager syndrome
(OMIM 154400)		 SF3B4 ADLimb deformities, preaxial abnormalities (e.g., small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, radioulnar synostosis)
Miller syndrome
(OMIM 263750)		 DHODH ARLimb deformities, postaxial abnormalities (e.g., small or absent 5th digit incl 5th metacarpal, ulnar hypoplasia, absent 5th toe)
Toriello-Carey syndrome
(OMIM 217980)		AR
  • Failure to grow
  • Microcephaly
  • Agenesis of corpus callosum
  • ID
  • Urogenital anomalies in affected males
  • Facial dysmorphisms (hypertelorism, flattened nasal bridge, anteverted nares)
  • Short neck
Branchial arch syndrome
(OMIM 301950)		XL
  • Microcephaly
  • ID
  • High-arched palate
  • Webbed neck
Bauru syndrome
(OMIM 604830)		AD
  • Upslanting palpebral fissures
  • Hypoplastic tragus & ear lobes
Hedera-Toriello-Petty syndrome
(OMIM 608257)		ADPtosis
Hemifacial macrosomia, Goldenhar syndrome, Oculoauriculovertebral spectrum
(OMIM 164210)		UnknownAD
  • Asymmetric
  • Preauricular tags & pits
  • Ocular epibulbar dermoid cyst
  • Cleft lip & palate
  • Vertebral anomalies, Kippel-Feil syndrome
Pierre Robin sequence
(OMIM 261800)		Cases of disruption of long-range cis-regulatory element → misregulation of SOX9ARMicrognathia, glossoptosis, & airway obstruction w/cleft palate deformity may self-correct w/growth & w/o intervention. 1
Nonsyndromic mandibular hypoplasia
  • Severe mandibular deficiencies (e.g., temporomandibular joint, ankylosis, aglossia/microglossia, rare craniofacial cleft)
  • Progressive micrognathia or retrognathia 1, 2

AD = autosomal dominant; AR = autosomal recessive; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

1.
2.

In one study, 52 of 266 individuals with congenital mandibular hypoplasia had TCS [Singh & Bartlett 2005]. Molecular diagnosis was not confirmed on these individuals.

From: Treacher Collins Syndrome

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