Bilateral microtia

Gene: SF3B4

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#154400:Acrofacial dysostosis 1, Nager type [Short stature; Microcephaly; Micrognathia; Midface retrusion; Retrognathia; Conductive deafness; Low-set ears; Posteriorly rotated ears; Preauricular tags; External auditory canal atresia; Downslanting palpebral fissures; Partial-total absence of lower eyelashes; Lower lid coloboma; High nasal bridge; Cleft palate; Cleft lip; Macrostomia; Trismus; Velopharyngeal insufficiency; Tetralogy of Fallot (in some patients); Ventricular septal defect (in some patients); Patent ductus arteriosus (in some patients); Laryngeal hypoplasia; Hypoplasia of the epiglottis; Hypoplastic first rib; Gastroschisis; Hirschsprung disease; Bicornuate uterus; Unilateral renal agenesis; Duplicated calyx; Hypoplastic zygomatic arch; Hypoplastic mandible; Scoliosis; Cervical vertebral abnormalities; Hip dislocation; Radioulnar synostosis; Limitation of elbow extension; Short forearms; Radial aplasia; Radial hypoplasia; Thumb aplasia/hypoplasia; Syndactyly; Clinodactyly; Triphalangeal thumbs; Missing toes; Hypoplastic toes; Toe syndactyly; Overlapping toes; Hallux valgus; Broad hallux; Clubfeet; Urticaria pigmentosa; Partial to total absence of eyelashes; Normal intelligence; Hydrocephalus; Aqueductal stenosis; Polymicrogyria; Speech delay; Premature birth]

Publications

• PMID:22541558
• 23568615
• 7958871

Green List (high evidence)

MIM 154400

Created: 3 Feb 2016, 9:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAUSES NAGER ACROFACIAL DYSOSTOSIS; SYNDROMIC FEATURES

Publications

• 22541558
• 23568615,