Synonym(s): - Sujansky-Leonard syndrome
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
FANCB	Q8NB91	300515

- Agenesis / hypoplasia / aplasia of kidneys
- Autosomal recessive inheritance
- Hydrocephaly
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcornea
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Polyhydramnios
- Stenosis of aqueduc of Sylvius
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- X-linked recessive inheritance

- Congenital cardiac anomaly / malformation / cardiopathy
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Vertebral segmentation anomaly / hemivertebrae

- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Inguinal / inguinoscrotal / crural hernia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Prematurity
- Sacrococcyx agenesis
- Single umbilical artery
- Spina bifida
- Stillbirth / neonatal death
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies