Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the
endothelin 1‐endothelin receptor type A signaling pathway. Animal models have highlighted …

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia
and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at …

Question mark (Cosman) ear is an auricular abnormality characterized by a cleft between
the lobule and the lower part of the helix, sometimes accompanied by a prominent or …

Waardenburg syndrome (WS) is an inherited sensorineural deafness condition in humans
caused by melanocyte deficiencies in the inner ear and forelock. Mutation of microphthalmia …

E26 transformation-specific 1 (ETS1) and friend leukemia integration 1 (FLI1) are members
of the ETS family of transcription factors, of which there are 28 in humans. Both genes are …

Among human birth defect syndromes, malformations affecting the face are perhaps the
most striking due to cultural and psychological expectations of facial shape. One such …

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by
mandibular hypoplasia and an auricular defect at the junction between the lobe and helix …

Mutations in the human genes encoding the endothelin ligand-receptor pair EDN3 and
EDNRB cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing …

MEF2C‐related disorders (aka MEF2C‐haploinsufficiency) are caused by variations in or
involving the MEF2C gene and are characterized by intellectual disability, developmental …

Abstract Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL)
syndrome caused by mutations in the microphthalmia-associated transcription factor (MITF) …