Synonym(s): - CHARGE association - Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities - Hall-Hittner syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical cardiac disease - Rare urogenital disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: D058747
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CHD7	Q9P2D1	608892
SEMA3E	O15041	608166

- Autosomal dominant inheritance
- Coloboma of iris
- External ear anomalies
- Facial palsy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Folded helix
- Hearing loss / hypoacusia / deafness
- Micropenis / small penis / agenesis
- Small / hypoplastic / adherent / absent ear lobe
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Autism / autistic disoders
- Bifid scrotum
- Broad nose / nasal bridge
- Cardiac septal defect
- Choanal atresia
- Cleft lip and palate
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Cryptophthalmia / ankyloblepharon / synblepharon
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed nasal bridge
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Grooved / dimple chin
- Hyperactivity / attention deficit
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypotonia
- Immobile soft palate / soft palate anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Narrow face
- Nystagmus
- Obsessive-compulsive disorder
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Patent ductus arteriosus
- Polyhydramnios
- Retinoschisis / retinal / chorioretinal coloboma
- Strabismus / squint
- Tetralogy of Fallot / trilogy of Fallot
- Uterine / uterus / Fallopian tubes anomalies

- Adrenal glands anomalies
- Anomalies of bones / skeletal anomalies
- Anomalies of eyes and vision
- Bone / osseous hypoplasia
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fifth finger
- Coloboma of the eyelid
- Cranial nerves palsy
- Dandy-Walker anomaly
- Defect / anomaly of lacrimal system
- Early death / lethality
- Ectopic / horseshoe / fused kidneys
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat cheek bones / malar hypoplasia
- High arched eyebrows
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Laryngomalacia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Preauricular / branchial tags / appendages
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib number anomalies
- Scoliosis
- Short hand / brachydactyly
- Stenosis of aqueduc of Sylvius
- Talipes-varus / metatarsal varus
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Vertebral segmentation anomaly / hemivertebrae
- Vesicorenal / vesicoureteral reflux