Affected structures arise from cranial neural crest cells, a population of cells in the embryo that reside in the pharyngeal arches and give rise to most of the bone, cartilage and connective tissue of the face. [bv.fapesp.br]

Auriculocondylar syndrome is a craniofacial disorder involving the first and second pharyngeal arches. [ctgt.net]

OMIM : 58 Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks [malacards.org]

It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter‐ and intra‐familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. [ingentaconnect.com]

Both genes are predicted to function in the endothelin 1 (EDN1)-endothelin receptor type A (EDNRA) signalling pathway during the development of the pharyngeal arches. [ashg.org]

Because hehad severe constipation,weperformed a contrast enema and an anorectal manometry forevaluation of the common findings of Hirschsprung disease. [documents.tips]

ears Feeding difficulties Macrocephaly And another 31 symptoms. [mendelian.co]

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3) Alamut Batch Paul Dimitri and Meena Balasubramanian and colleagues report a study that describes the common facial dysmorphism consisting of bilateral low-set [interactive-biosoftware.com]

Ex-amination of his genitalia revealed an enlarged phallus at genitaliaStage 3, pubic hair Stage 3, axillary hair Stage 1, and testicularvolumes of 23 ml on the right and 2 ml on the left. He had a raisedACTH of 90.1 ng/L (normal range 050 ng/L). [documents.tips]