A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

• Published in: American journal of medical genetics. Part A Vol. 155A; no. 9; pp. 2060 - 2065
• Main Authors: Tyshchenko, N., Neuhann, T.M., Gerlach, E., Hahn, G., Heisch, K., Rump, A., Schrock, E., Tinschert, S., Hackmann, K.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.09.2011; Wiley-Liss
• Subjects: Abnormalities, Multiple; Adult; Adult and adolescent clinical studies; autosomal dominant syndrome; Biological and medical sciences; Blepharoptosis; Child, Preschool; Chromosome Disorders - genetics; Cleft lip/palate; Cleft Palate; Craniofacial Abnormalities; Craniofacial syndromes; developmental delay; Ear; Ear - abnormalities; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Eye Abnormalities; Face - abnormalities; Facial bones, jaws, teeth, parodontium: diseases, semeiology; facial dysmorphism; Female; Hearing Loss; Heart; Heart Defects, Congenital; Hereditary diseases; Humans; Infant; Intellectual deficiency; intellectual disability; Learning; learning disabilities; Learning Disorders; Lip; Male; Medical genetics; Medical sciences; Middle Aged; Non tumoral diseases; Otorhinolaryngology. Stomatology; prominent eyes; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Syndrome; Cleft palate; prominent eyes; Auditory disorder; Dysmorphic facies; Developmental disorder; Mental retardation; Eye; Eyelid disease; Learning disability; blepharoptosis; ENT disease; learning disabilities; Anomaly; Dominant character; Face; Handicap; Stomatology; Ptosis; Congenital disease; Genetic disease; Hearing loss; facial dysmorphism; Eye disease; Malformation; Autosomal character; Ear; Intellectual deficiency; autosomal dominant syndrome; developmental delay; Oral cavity disease; intellectual disability
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.34159

We report on three patients from two families with apparently a novel clinical entity. The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, low‐set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay. We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy. © 2011 Wiley‐Liss, Inc.